1. No category

REFERENCES
·
Ackerman, M.J. and Clapham, D.E. (1997) Ion-Channels- Basic science and
Clinical Disease. Mechanisms of Disease 336(22), 1575-1586.
·
Alves Cde, A., Aguiar, R. A., Alves, A. C. and Santana. M. A. (2007)
Diabetes mellitus in patients with cystic fibrosis. J Bras Pneumol 33(2), 21321.
·
Anderson, D.H. (1938) Cystic fibrosis of the pancreas and its relation to celiac
disease: A clinical and pathological study. Am. J. Dis. Child 56, 344-349.
·
Anguiano, A., Oates, R., Amos, J.A., Dean, M., Gerrard, B., Stewart, C.,
Maher, T.A., White, M.B. and Milunsky, A. (1992) Congenital bilateral
absence of the vas deferens: a primarily genital form of cystic fibrosis. JAMA
267, 1794–1797.
·
Ashavaid, T.F., Dherai, A.J., Kondkar, A.A., Raghavan, R., Udani, S.V.,
Udwadia, Z. and Desai, F. (2003) Molecular Diagnosis of Cystic Fibrosis in
Indian Patients, JAPI 51:345-348.
·
Augarten, A., Yahav, Y., Kerem, B., Halle, D., Laufer, J., Szeinberg, A., Dor,
J., Mashiach, S., Gazit, E. and Madgar, I. (1994) Congenital bilateral absence
of vas deferens in the absence of cystic fibrosis. Lancet 344, 1473–1474.
·
Bhatia, E., Balasubramanium, K. and Rajeswari, J. (2003) Absence of
association between SPINK1 trypsin inhibitor mutations and Type 1 or 2
diabetes mellitus in India and Germany. Diabetologia 46, 1710–11.
·
Bhutta, Z.A., Moattar, T. and Shah, U. (2000) Genetic analysis of cystic
fibrosis in Pakistan: a preliminary report. J Pak Med Assoc 2000; 50:217–9.
·
Bobadilla, J.L., Macek, M. Jr., Fine, J.P., Farrell, P.M. (2002) Cystic fibrosis:
a worldwide analysis of CFTR mutations--correlation with incidence data and
application to screening. Human Mutation 19(6), 575-606.
·
Bowlers, I. M., Estelin, E. J. and Littlewood, J. M. (1993) Cystic fibrosis in
Asians. Arch Dis Child 68, 120–122.
·
Boyle, M. (2007) Strategies for identifying modifier genes in cystic fibrosis.
Proc Am Thorac Soc 4, 52-57.
·
Bremer, S., Hoof, T., Wilke, M., et al. (1992) Quantitative expression patterns
of multidrug-resistance P-glycoprotein (MDR1) and differentially spliced
cystic-fibrosis transmembrane-conductance regulator mRNA transcripts in
human epithelia. Eur J Biochem 206, 137-149.
Department of Zoology, Dr. H.S. Gour Central University, Sagar (M.P.)
59
REFERENCES
·
C.F.F. (2002, 2004,2006) Cystic Fibrosis Foundation Patient registry. Annual
Data Report. Toronto, Canada.
·
Carlstedt-Duke, J., Brönnegård, M., Strandvik, B. (1986) Pathological
regulation of arachidonic acid release i cystic fibrosis: the putative basic
defect. Proc Natl Acad Sci USA 83, 9202-9206.
·
Casals, T., Bassas, L., Egozcue, S., et al. (2000) Heterogeneity for mutations
in the CFTR gene and clinical correlations in patients with congenital absence
of the vas deferens. Hum Reprod 7, 1476-83.
·
Casals, T., Bassas, L.L., Ruiz-Romero, J., et al. (1995) Extensive analysis of
40 infertile patients with congenital absence of the vas deferens: in 50% of
cases only one CFTR allele could be detected. Hum Genet 95, 205-211.
·
Cashman, S.M., Patino, A., Martinez, A., Garcia-Delgado, M.,
Miedzybrodzka, Z., Schwarz, M., et al. (1995) Identical intragenic
microsatellite haplotype found in cystic fibrosis chromosomes bearing
mutation G551D in Irish, English, Scottish, Breton and Czech patients. Hum
Hered 45, 6–12.
·
Chang, L.-Y., Schell, M., Ringelberg, C., Tang, K., Matteson, K. J., Allman,
S. L. and Chen, C.H. (2005) Rapid Communications in Mass Spectrometry
9(9), 772–774.
·
Chen, J.M., Mercier, B. and Audrezet, M.P. (2001) Mutations of the
pancreatic secretory trypsin inhibitor (PSTI) gene in idiopathic chronic
pancreatitis. Gastroenterology 120, 1061–4.
·
Cheng, S.H., Gregory, R.J., Marshall, J., Paul, S., Souza, D.W., White, G.A.,
O`Riordan, C.R. and Smith, A.E. (1990) Defective intracellular transport and
processing of CFTR is the molecular basis of most cystic fibrosis. Cell 63,
827–34.
·
Chillón, M., Casals, T., Mercier, B., et al. (1995) Mutations in the cystic
fibrosis gene in patients with congenital absence of the vas deferens. N Engl J
Med 332, 1475-80.
·
Chmiel, J.F. and Davis, P.B. (2003) State of the art: why do the lungs of
patients with cystic fibrosis become infected and why can’t they clear the
infection? Respir Res 4, 8.
Department of Zoology, Dr. H.S. Gour Central University, Sagar (M.P.)
60
REFERENCES
·
Chu, C.S., Trapnell, B.C., Curristin, S., Cutting, G.R., Crystal, R.G. (1993)
Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane
conductance regulator mRNA. Nat Genet 3, 151-156.
·
Chu, C.S., Trapnell, B.C., Murtagh, J.J. Jr., et al. (1991) Variable deletion of
exon 9 coding sequences in cystic fibrosis transmembrane conductance
regulator gene mRNA transcripts in normal bronchial epithelium. EMBO J
10, 1355-1363.
·
Claustres, M. (2004) Molecular pathology of the CFTR locus in male
infertility. Reprod Biomed Online 10, 14–41.
·
Claustres, M., Guittard, C., Bozon, D., Chevalier, F., Verlingue, C. and Ferec,
C. (2002) Spectrum of CFTR mutations in cystic fibrosis and in congenital
absence of the vas deferens in France. Hum Mut 16, 143-156.
·
Claustres, M., Guittard, C., Bozon, D., Chevallier, F., et al. (2000) Spectrum
of CFTR mutations in cystic fibrosis and in congenital absence of the vas
deferens in France. Hum Mutat 216, 143–156.
·
Cohn, J.A., Friedman, K.J., Noone, P.G., Knowles, M.R., Silverman, L.M.
and Jowell, P.S. (1998) Relation between mutations of the cystic fibrosis gene
and idiopathic pancreatitis. N Engl J Med 3; 339(10), 653-8.
·
Cohn, J.A., Strong, T.V., Picciotto, M.R., Nairn, A.C., Collins, F.S. and Fitz,
J.G. (1993) Localization of the cystic fibrosis transmembrane conductance
regulator in human bile duct epithelial cells. Gastroenterology 105(6), 18571864.
·
Colombo, C. (2007). Liver disease in cystic fibrosis. Curr Opin Pulm Med
13(6), 529-536.
·
Colombo, C., Russo, M. C., Zazzeron, L. and Romano, G. (2006) Liver
disease in cystic fibrosis. J Pediatr Gastroenterol Nutr 43 Suppl 1, S49-55.
·
Corvol, H., Nathan, N., Charlier, C., Chadelat, K., Rouzic, P. Le, Tabary, O.,
Fauroux, B., Caude, A., Feingold, J., Boelle, P. and Clement, A. (2007)
“Glucocorticoid receptor gene polymorphisms associated with progression of
lung disease in young patients with cystic fibrosis”. Respiratory Research
88(8), 1465-9921.
Department of Zoology, Dr. H.S. Gour Central University, Sagar (M.P.)
61
REFERENCES
·
Costes, B., Girodon, E., Ghanem, N., Flori, E., Jardin, A., Soufir, J.C. and
Goossens, M. (1995) Frequent occurrence of the CFTR intron 8 (TG)n 5T
allele in men with congenital bilateral absence of the vas deferens. Eur J Hum
Genet 3, 285–293.
·
Culard, J.F., Desgeorges, M., Costa, P., et al. (1994) Analysis of the whole
CFTR coding regions and splice junctions in azoospermic men with
congenital bilateral aplasia of epididymis or vas deferens. Hum Genet 93, 467470.
·
Curtis, A., Richardson, R. J., Boohene, J., Jackson, A., Nelson, R. and
Bhattacharya, S. S. (1993) Absence of cystic fibrosis mutations in a large
Asian population sample and occurrence of a homozygous S549N mutation in
an inbred Pakistani family. J Med Genet 30, 164–166.
·
Cutting, G.R. (2002) Cystic fibrosis. In: Rimon, D.L., Connor, J.M., Pyeritz,
R.E., Korf, B.R. Principles and Practice of Medical Genetics. 4th ed. Harcourt
publishers, p. 1561–606.
·
Cystic Fibrosis Foundation (2001) Cystic Fibrosis Foundation Patient Registry
Annual Report 2000. Bethesda: Cystic Fibrosis Foundation.
·
Delaney, S.J., Rich, D.P., Thomson, S.A., et al. (1993) Cystic fibrosis
transmembrane conductance regulator splice variants are not conserved and
fail to produce chloride channels. Nat Genet 4, 426-431.
·
Denning, C., Sommers, S., Quigley, H. (1968) Infertility in male patients with
cystic fibrosis. Pediatrics 41, 7-17.
·
Di Sant' Agnese, P.A., Darling, R.C., Perera, G.A. and Shea, E. (1953)
Abnormal electrolyte composition in sweat in cystic fibrosis of the pancreas,
its clinical significance and relationship to the disease. Pediatrics 12, 549563.
·
Dodge, J., Lewis, P. A., Stanton, M. and Wilsher, J. (2007) Cystic Fibrosis
survival in the United Kingdom, 1947 to 2003. Eur Resp J 29, 522–526.
·
Dodge, J.A. (1995) Male fertility in cystic fibrosis. Lancet S 2; 346(8975),
587-8.
·
Dörk, T., Dworniczak, B., Aulehla-Scholz, C., et al. (1997) Distinct spectrum
of CFTR gene mutations in congenital absence of vas deferens. Hum Genet
100, 365-77.
Department of Zoology, Dr. H.S. Gour Central University, Sagar (M.P.)
62
REFERENCES
·
Dork, T., Neumann, T., Wuibrand, U., Wulf, B., Kalin, N., Maa, G.,
Krawczak, M., Guillermit, H., Ferec, C., Horn, G., Klinger, K., Kerem, B.-S.,
Zielenski, J., Tsui, L.-C. and T¨ummler, B. (1992) Intra- and extragenic
marker haplotypes of CFTR mutations in cystic fibrosis families. Hum Genet
88, 417–425.
·
Durie, P., Forstner, G. (1999) The exocrine pancreas. In: Yankaskas, J,
Knowles, M, eds. Cystic fibrosis in adults. Philadelphia: Lippincott-Raven
Publishers, 261-287.
·
Edward, F., McKone, M.D., M.S.; Christopher H. Goss, M.D., M.S., F.C.C.P.
and Moira, L. (2006) Aitken “CFTR Genotype as a Predictor of Prognosis in
Cystic Fibrosis” Chest 130, 1441-1447.
·
Eggermont, E. and De Boeck, K. (1991) Small-intestinal abnormalities in
cystic fibrosis patients. Eur J Pediatr 150(12), 824-8.
·
Ellsworth, R. E., Jamison, D. C., Touchman, J. W., Chissoe, S. L., Braden, M.
V. V., Bouffard, G. G., Dietrich, N. L., Beckstrom-Sternberg, S. M., Iyer,
L.M., Weintraub, L.A., Cotton, M., Courtney, L, Edwards, J., Maupin, R.,
Ozersky, P., Rohlfing, T., Wohldmann, P., Miner, T., Kemp, K., Kramer,
J., Korf, I., Pepin, K., Antonacci-Fulton, L., Fulton, R. S., Minx, P., Hillier,
L.W., Wilson, R.K., Waterston, R. H., Miller, W. and Green, E.D. (2000).
Comparative genomic sequence analysis of the human and mouse cystic
fibrosis transmembrane conductance regulator genes. Proc Natl Acad Sci USA
97(3), 1172–7.
·
Estivill, X., Bancells, C., Ramos, C., Biomed, C. F. (1997) Mutation Analysis
Consortium. Geographic distribution and regional origin of 272 cystic fibrosis
mutations in European populations. Hum Mutat 10, 135–54.
·
Fanconi, G., Wehlinger, E. and Knauer C. Das (1936) Cocliakie-Syndrom bei
bronchiectasien. Wien Med Wochenschr 86, 753-756.
·
Fanen, P., Ghanem, N., Vidaud, M., Besmond, C., Martin, J. and Costes, B.
(1992) Molecular characterisation of cystic fibrosis: 16 novel mutations
identified by analysis of the whole cystic fibrosis conductance transmembrane
regulator (CFTR) coding regions and splice site junctions. Genomics 13, 770–
776.
Department of Zoology, Dr. H.S. Gour Central University, Sagar (M.P.)
63
REFERENCES
·
Ferrie, R. M., Schwarz, M.J., Robertson, N.H., Vaudin, S., Super, M., Malone,
G., et al. (1992) Development, multiplexing, and application of ARMS tests
for common mutations in the CFTR gene. Am J Hum Genet 51(2), 251-62.
·
Freedman, S.D., Blanco, P.G., Zaman, M.M., Shea, J.C., Ollero, M., Hopper,
I.K., Weed, D.A., et al. (2004) Association of cystic fibrosis with
abnormalities in fatty acid metabolism. N Engl J Med 350, 560-569.
·
Gibson, L. E. and Cooke, R. E. (1959) A test for concentration of electrolytes
in sweat in cystic fibrosis of the pancreas utilizing pilocarpine by
iontophoresis. Pediatrics 23, 545–549.
·
Gilljam, M., Antoniou, M., Shin, J., Dupuis, A., Corey, M. and Tullis, D.E.
(2000) Pregnancy in cystic fibrosis. Fetal and maternal outcome. Chest
118(1), 85–91.
·
Glavac-R, M., Glavac, D. and Dean, M. (1994) Sensitivity of single strand
comformation polymorphism and heteroduplex method for mutation detection
in the cystic fibrosis gene. Hum Mol Genet 3, 801–807.
·
Grasemann, H. (2006) Disease modifier genes in cystic fibrosis. In: Webb,
AK, Ratjen, F, eds. Cystic Fibrosis. Wakefield, UK: European Respiratory
Society, Monograph 35, 50-65.
·
Groman, J. D., Karczeski, B., Sheridan, M., Robinson, T. E., Fallin, M. D. and
Cutting, G. R. (2005) Phenotypic and genetic characterization of patients with
features of “nonclassic” forms of cystic fibrosis. J Pediatr 146(5), 675-680.
·
Groman, J. D., Meyer, M. E., Wilmott, R.W., Zeitlin, P. L. and Cutting G.R.
(2002) Variant cystic fibrosis phenotypes in the absence of CFTR mutations.
N Engl J Med 347(6), 401-407.
·
Groman, J.D., Hefferon, T.W., Casals, T., Bassas, L., Estivill, X., Des
Georges, M., Guittard, C., et al. (2004) Variation in a repeat sequence
determines whether a common variant of the cystic fibrosis transmembrane
conductance regulator gene is pathogenic or benign. Am J Hum Genet 74,
176-179.
·
Hanrahan, J.W. and Wioland, M.A. (2004) Revisiting cystic fibrosis
transmembrane conductance regulator structure and function. Proc Am Thorac
Soc 1, 17-21.
Department of Zoology, Dr. H.S. Gour Central University, Sagar (M.P.)
64
REFERENCES
·
Hartl, L. D. and Jones, E.W. (2000) Genetics analysis of Genes and Genomes.
5th ed., Jones and Bartlett Publishers, Sudbury, Massachusetts, 161-165.
·
Haworth, C. S., Selby, P. L., Webb, A. K., Dodd, M. E., Musson, H., McL.
Niven, R., Economou, G., Horrocks, A.W., Freemont, A. J., Mawer, E. B. and
Adams, J. E. (1999) Low bone mineral density in adults with cystic fibrosis.
Thorax 54(11), 961-7.
·
Hefferon, T.W., Groman, J.D., Yurk, C.E., Cutting, G.R. (2004) A variable
dinucleotide repeat in the CFTR gene contributes to phenotype diversity by
forming RNA secondary structures that alter splicing. Proc Natl Acad Sci USA
101, 3504-3509.
·
Holsclaw, D., Perlmutter, A., Jockin, H. and Schwachman, H. (1971) Genital
abnormalities in male patients with cystic fibrosis. J Urol 106, 568-574.
·
Hytönen, M., Patjas, M., Vento, S.I., Kauppi, P., Malmberg, H., Ylikoski, J.
and Kere, J. (2001) Cystic fibrosis gene mutations deltaF508 and 394delTT in
patients with chronic sinusitis in Finland. Acta Oto-laryngologica 121(8),
945–7.
·
Jakubiczka, S., Bettecken, Th., Stumm, M., Nickel, I., Müsebeck, J., Krebs,
P., Fischer, Ch., Kleinstein, J. and Wieacker, P. (1999) “Frequency of CFTR
gene mutations in males participating in an ICSI programme: Brief
communication”. Human Reproduction 14(7), 1833-1834.
·
Kabra, M., Ghosh, M., Kabra, S. K., Khanna, A. and Verma, I.C. (1996) Delta
F 508 molecular mutation in Indian children with cystic fibrosis. Indian J Med
Res 104, 355-358.
·
Kabra, M., Kabra, S. K., Ghosh, M., Khanna, A., Arora, S., Menon, P. S.,
Verma, I. C. and Wallace, A. (2000) Is the spectrum of mutations in Indian
patients with cystic fibrosis different? Am J Med Gen 93, 161–163.
·
Kabra, M., Wallace A., Ghosh, M., Khanna, A., Kabra, S., Arora, S. and
Verma, I.C. (1998) Cystic Fibrosis in India: report of 30 cases and frequency
of Delta F508 mutation. Ind J Hum Genet 4, 103-105.
·
Kabra, S. K, Madhulika, Connett, G.J. and Rolles, C.J. (1999) Diagnosis of
cystic fibrosis: Indian perspective. Indian J Pediatr 66, 923-928.
Department of Zoology, Dr. H.S. Gour Central University, Sagar (M.P.)
65
REFERENCES
·
Kabra, S. K., Kabra, M., Ghosh, M. and Verma, I.C. (1996) Cystic fibrosis-an
Indian perspective on recent advances in diagnosis and management. Indian J
Pediatr 63, 189-198.
·
Kabra, S. K., Kabra, M., Ghosh, M., Khanna, A. and Pandey, R.M. (1999)
Cystic fibrosis in Indian children: clinical profile of 62 children. Pediatr
Pulmonol, 19 (supplement): 337 (Abstract).
·
Kabra, S.K., Kabra, M., Lodha, R., Shastri, S., Ghosh, M., Pandey, R.M.,
et al. (2003) Clinical profile and frequency of delta F508 mutation in Indian
children with cystic fibrosis. Indian Pediatr 40, 612–9.
·
Kalin, N., Claass, A., Sommer, M., Puchelle, E. and Tummler, B. (1999)
DeltaF508 CFTR protein expression in tissues from patients with cystic
fibrosis. J Clin Invest 103, 1379–89.
·
Kaplan, E., Schwachman, H. and Perlmutter, A. (1968) Reproductive failure
in males with cystic fibrosis. N Engl J Med 279, 65-69.
·
Kapoor, V., Shastri, S. S., Kabra, M., Kabra, S. K., Ramachandran,V., Arora,
S., Balakrishnan, P., Deorari, A. K. and Paul, V. K. (2006) Carrier frequency
of F508del mutation of cystic fibrosis in Indian population. J Cyst Fibrosis 5,
43–46.
·
Kartner, N., Augustinas, O., Jensen, T.J., Naismith, A.L. and Riordan, J.R.
(1992) Mislocalization of delta F508 CFTR in cystic fibrosis sweat gland. Nat
Genet 1, 321–7.
·
Kerem, B., Rommens, J.M., Buchanan, W.J.A., Markiewicz, D., Cox, T.K.,
Chakravarti, A., Buchwald, M., et al. (1989) Identification of the cystic
fibrosis gene: genetic analysis. Science 245, 1073-1080.
·
Kerem, B., Zielenski, J., Markiewicz, D., Bozon, D., Gazit, E., Yahav, J.,
Kennedy, D., Riordan, J. R., Collins, F. S., Rommens, J. M., Bozon, D., Gazit,
E., Yahav, J., Kennedy, D., Riordan, J. R., Collins, F. S., Rommens, J. M. and
Tsui L. C. (1990) Identification of mutations in regions corresponding to the
two putative nucleotides (ATP) binding folds of the cystic fibrosis gene. Proc
Natl Acad Sci USA 87, 8447–8451.
·
Khoshoo, V. and Udall, J.N. Jr. (1994) Meconium ileus equivalent in children
and adults. Am J Gastroenterol 89(2), 153-7.
Department of Zoology, Dr. H.S. Gour Central University, Sagar (M.P.)
66
REFERENCES
·
Kilinc, M. O., Ninis, V. N., Dagli, E., Demirkol, M., Ozkinay, F., Arikan, Z.,
Cogulu,O., Huner,G., Karakoc, F. and Tolun, A. (2002) Highest heterogeneity
for cystic fibrosis: 36 mutations account for 75% of all CF chromosomes in
Turkish patients. Am J Med Genet 113, 250–257.
·
Krawczak, M., Konecki, D. S., Schmidke, J., Duck, M., Engel, W. and
Nutzenadel, W. (1988) Alleleic association of the cystic fibrosis locus and two
DNA markers XV2C and KM19 in German families. Hum Genet 80, 78–80.
·
Kulczycki, L.L. and Shwachman, H. (1958) Studies in cystic fibrosis of the
pancreas; occurrence of rectal prolapse. N Engl J Med 259(9), 409-12.
·
Lannefors, L. and Lindgren, A. (2002) Demographic transition of the Swedish
cystic fibrosis community-results of modern care. Respir Med 96, 681-685.
·
Larson, J.E., Cohen, J.C. (2005) Developmental paradigm for early features of
cystic fibrosis. Pediatr Pulmonol 40, 371-377.
·
Liechti-Gallati, S., Schneider, V., Neeser, D. and Kraemer, R. (1999) Two
buffer PAGE system-based SSCP/HD analysis: a general protocole for rapid
and sensitive mutation screening in cystic fibrosis and any other human
genetic disease. Eur J Hum Genet 7(5), 590-8.
·
Loirat, F., Hazout, S. and Lucotte, G. (1997) G542X as a probable Phoenician
cystic fibrosis mutation. Hum Biol 69, 419–25.
·
Macek, M. Jr., Macek, M., Serre, J.L., Vavrova, V., Burger, J., Reis, A., et al.
(1991) Population study of CFTR gene mutations in Bohemia and Moravia:
hypothesis on the historical spread of G551D and deltaF508 in Europe. Am J
Hum Genet 49, A474, A2703.
·
Mak, V., Zielenski, J., Tsui, L-C., Durie, P., et al. (1999) Proportion of cystic
fibrosis gene mutations not detected by routine testing in men with obstructive
azoospermia. J Am Med Assoc 281, 2217–2224.
·
Maldonado, M., Martinez, A., Alobid, I. and Mullol, J. (2004) The
antrochoanal polyp. Rhinology 42(4), 178-82.
·
Malfroot, A. and Dab, I. (1991) New insights on gastro-oesophageal reflux in
cystic fibrosis by longitudinal follow up. Arch Dis Child 66(11), 1339–45.
·
Mantle, D. and Norman, A. (1966) Life-table for cystic fibrosis. Br Med J 2,
1238-1241.
Department of Zoology, Dr. H.S. Gour Central University, Sagar (M.P.)
67
REFERENCES
·
Marisa Sousa, Jiraporn Ousingsawat, Roswitha Seitz, Supaporn
Puntheeranurak, Ana Regalado, Andre´ Schmidt, Tiago Grego, Chaweewan
Jansakul, Margarida D. Amaral, Rainer Schreiber, and Karl Kunzelmann
(2007). An Extract from the Medicinal Plant Phyllanthus acidus and Its
Isolated Compounds Induce Airway Chloride Secretion: A Potential
Treatment for Cystic Fibrosis Mol Pharmacol 71(1), 366–376.
·
Mark, R. Silvis and John A. Picciano, Carol Bertrand, Kelly Weixel, Robert,
J. Bridges and Neil A. Bradbury (2003) “A Mutation in the Cystic Fibrosis
Transmembrane Conductance Regulator Generates a Novel Internalization
Sequence and Enhances Endocytic Rates”. The Journal of Biological
Chemistry 278(13).
·
Massie, R.J., Delatycki, M.B. and Bankier, A. (2005) Screening couples for
cystic fibrosis carrier status: why are we waiting? Med J Aust 183(10), 501502.
·
Mateu, E., Calafell, F., Lao, O., Bonne-Tamir, B., Kidd, J.R., Pakstis, A.,
Kidd, K.K. and Bertranpetit, J. (2001) Worldwide genetic analysis of the
CFTR region. Am J Hum Genet 68, 103–17.
·
Mateu, E., Calafell, F., Ramos, M.D., Casals, T., Bertranpetit, J. (2002) Can a
place of origin of the main cystic fibrosis mutations be identified? Am J Hum
Genet 70, 257–64.
·
McCallum, T. J., Milunsky, J. M., Cunningham, D. L., Harris, D. H., Maher,
T.A. and Oates, R. D. (2000) Fertility in men with cystic fibrosis: an update
on current surgical practices and outcomes. Chest 118(4), 1059–62.
·
McCallum, T.J., Milunsky, J.M., Munarriz, R., Carson, R., et al. (2001)
Unilateral renal agenesis associated with congenital bilateral absence of the
vas deferens: phenotypic findings and genetic considerations. Hum Reprod 16,
282–288.
·
Mehta, A. (2005) CFTR: more than just a chloride channel. Pediatr Pulmonol
39, 292-298.
·
Mei-Zahav, M., Durie, P., Zielenski, J., Solomon, M., Tullis, E., Tsui, L.-C.
and Corey, M. (2005) The prevalence and clinical characteristics of cystic
fibrosis in South Asian Canadian immigrants. Arch Dis Child 90, 675–679.
Department of Zoology, Dr. H.S. Gour Central University, Sagar (M.P.)
68
REFERENCES
·
Mercier, B., Verlingue, C., Lissens, W., Silber, S.J., Novelli, G., Bonduelle,
M., Audrezet, M.P. and Ferec, C. (1995). Is congenital bilateral absence of vas
deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67
patients. Am J Hum Genet 56, 272–277.
·
Meschede, D., Dworniczak, B., Behre, H.M., Kliesch, S., et al. (1997) CFTR
gene mutations in men with bilateral ejaculatory-duct obstruction and
anomalies of the seminal vesicles. Am J Hum Genet 61, 1200–1202.
·
Mickle, J., Milunsky, A., Amos, J.A. and Oates, R.D. (1995) Congenital
unilateral absence of the vas deferens: a heterogeneous disorder with two
distinct subpopulations based upon aetiology and mutational status of the
cystic fibrosis gene. Hum Reprod 10, 1728–1735.
·
Miller, S.A., Dykes, D.D. and Polesky, H.F. (1988) A simple setting out
procedure for extracting DNA from human nucleated cells. Nucleic Acid Res
16, 1215.
·
Mishra, A., Greaves, R., Massie, J. (2005) The relevance of sweat testing for
the diagnosis of cystic fibrosis in the genomic era. Clin Biochem Rev 26(4),
135-153.
·
Moran, A., Pyzdrowski, K. L., Weinreb, J., Kahn, B. B., Smith, S. A., Adams,
K. S. and Seaquist, E. R. (1994) Insulin sensitivity in cystic fibrosis. Diabetes
43(8), 1020–6.
·
Morral, N,, Dork, T., Llevadot, R., Dziadek, V., Mercier, B., Ferec, C.,
Costes, B., Girodon, E., Zielenski, J., Tsui, L.C., Tummler, B., Estivill, X.
(1996) Haplotype analysis of 94 cystic fibrosis mutations with seven
polymorphic CFTR DNA markers. Hum Mutat 8, 149–59.
·
Morral, N., Bertanpetit, J., Estivill, X., Nunes, V., Gim´enez, J., Reis, A.,
Varon-Mateeva, R., Macek, M. Jr., Kalaydjieva, L., Angelicheva, D.,
Dancheva, R., Romeo, G., Russo, M. P., Garnerone, S., Restagno, G., Ferrari,
M., Magnani, C., Morral, N., Nunes, V., Casals, T., Chill´on, M., Gim´enez, J.
and Estivill, X. (1993) Microsatellite haplotypes for cystic fibrosis: mutation
frameworks and evolutionary tracers. Hum Mol Genet 2, 1015–1022.
·
Morral, N., Bertranpetit, J., Estivill, X., Nunes, V., Casals, T., Gimenez, J.,
Reis, A., Varon-Mateeva, R., Macek, M. Jr, Kalaydjieva, L., et al. (1994). The
origin of the major cystic fibrosis mutation (delta F508) in European
populations. Nat Genet 7(2), 169–75.
Department of Zoology, Dr. H.S. Gour Central University, Sagar (M.P.)
69
REFERENCES
·
Newton, C.R., Graham, A., Heptinstall L.E., Powell S.J., Summers, C.,
Kalshekar, N., Smith, J.C. (1989) Analysis of any point mutation in DNA : the
amplification refractory mutation system (ARMS). Nucleic acids Res 17,
2503-2516.
·
Oates, R.D. and Amos, J.A. (1994) The genetic basis of congenital bilateral
absence of the vas deferens and cystic fibrosis. J Androl 15, 1–8.
·
Ockenga, J., Stuhrmann, M. and Ballmann, M. (2000) Mutations of the cystic
fibrosis gene, but not cationic trypsinogen gene, are associated with recurrent
or chronic idiopathic pancreatitis. Am J Gastroenterol 95, 2061–7.
·
Osborne, L.R., Lynch, M., Middleton, P.G., et al. (1993) Nasal epithelial ion
transport and genetic analysis of infertile men with congenital bilateral
absence of the vas deferens. Hum Mol Genet 2, 1605-1609.
·
Paracchini, V., Seia, M., Coviello, D., Porcaro, L., Costantino, L., Capasso,
P., Degiorgio, D., Padoan, R., Corbetta, C., Claut, L., Costantini, D. and
Colombo, C. (2008) Molecular and clinical features associated with CFTR
gene rearrangements in Italian population: identification of a new duplication
and recurrent deletions. Clinical Genetics 73(4), 346-52.
·
Parameswaran, G. I. and Murphy T. F. (2007) Infections in chronic lung
diseases. Infect Dis Clin North Am 21(3), 673-695.
·
Pfutzer, R.H., Barmada, M.M. and Brunskill, A.P. (2000) SPINK1/PSTI
polymorphisms act as disease modifiers in familial and idiopathic chronic
pancreatitis. Gastroenterology 119, 615–23.
·
Powers, C. A., Potter, E. M., Wessel, H. U. and Lloyd-Still, J. D. (1996)
Cystic fibrosis in Asian Indians. Arch Pediatr Adolesc Med 150, 554–555.
·
Quinton, P.M. (1983) Chloride impermeability in cystic fibrosis. Nature 301,
421-422.
·
Radpour, R., Gourabi, H., Gilani, M. A. S. and Dizaj, A. V. (2008) Journal of
Andrology 29(1), 35-40.
·
Rajesh, G., Elango, E.M., Vidya, V. and Balakrishnan, V. (2009) Genotypephenotype correlation in 9 patients with tropical pancreatitis and identified
gene mutations. Indian J Gastroenterol 28(2), 68-71.
·
Ramsey, B. and Richardson, M. A. (1992) Impact of sinusitis in cystic
fibrosis. Allergy Clin Immunol 90(3 Pt 2), 547-52.
Department of Zoology, Dr. H.S. Gour Central University, Sagar (M.P.)
70
REFERENCES
·
Rave-Harel, N., Madgar, I., et al. (1995) CFTR haplotype analysis reveals
generic heterogeneity in the etiology of congenital bilateral aplasia of the vas
deferens. Am J Hum Genet 56, 1359-66.
·
Rawashdeh, M. and Manal, H. (2000) Cystic fibrosis in Arabs: a prototype
from Jordan. Ann Trop Paediatr 20, 283–286.
·
Riordan, J. R., Rommens, J. M., Kerem, B., Alon, N., Rozmahel, R.,
Grzelczak, Z., Zielenski, J., Lok, S., Plavsic, N., Chou, J. L., Drumm, M. L.,
Iannuzzi, M. C., Collins, F. S. and Tsui, L. C. (1989) Identification of the
cystic fibrosis gene: cloning and characterization of complementary DNA.
Science 245, 1066–1073.
·
Robbins, M. and Ontjes, D. (1999) Endocrine and renal disorders in cystic
fibrosis. In: Yankaskas, JR, Knowles, M, eds. Cystic fibrosis in adults.
Philalephia: Lippincott-Raven 383-418.
·
Rommens, J. M., Iannuzzi, M. C., Kerem, B., Drumm, M. L., Melmer, G.,
Dean, M., Rozmahel, R., Cole, J. L., Kennedy, D., Hidaka, N., Zsiga, M.,
Buchwald, M., Riordan, J. R., Tsui, L. C. and Collins, F. S. (1989)
Identification of the cystic fibrosis gene: chromosome walking and jumping.
Science 245, 1059–1065.
·
Rose, M.C., Voynow, J.A. (2006) Respiratory tract mucin genes and mucin
glycoproteins in health and disease. Physiol Rev 86, 245-278.
·
Rossi, T., Grandoni, F., Mazzilli, F., Quattrucci, S., Antonelli, M., Strom, R.,
Lucarelli, M. (2004) High frequency of (TG) mTn variant tracts in the cystic
fibrosis transmembrane conductance regulator gene in men with high semen
viscosity. Fertil Steril 82, 1316-1322.
·
Rowe, S.M., Miller, S. and Sorscher, E.J. (2005) Cystic fibrosis. N Engl J
Med 12; 352(19), 1992–2001.
·
Rowntree, R.K. and Harris, A. (2003) The phenotypic consequences of CFTR
mutations. Ann Hum Genet 67, 471–85.
·
Schwartz, M., Sørensen, N., Brandt, N.J., Høgdall, E., Holm, T. (1995) High
incidence of cystic fibrosis on the Faroe Islands: a molecular and genealogical
study. Hum Genet 95, 703–6.
·
Scriver, C.R. (2001) The Metabolic & Molecular Bases of Inherited Disease.
8th ed. New York, NY: McGraw-Hill.
Department of Zoology, Dr. H.S. Gour Central University, Sagar (M.P.)
71
REFERENCES
·
Sharer, N., Schwarz, M., Malone, G., et al. (1998) Mutations of the cystic
fibrosis gene in patients with chronic pancreatitis. N Engl J Med 339, 645–
52.
·
Shastri, S. S., Kabra, M., Kabra, S. K., Pandey, R. M. and Menon, P. S. N.
(2008) Characterisation of mutations and genotype-phenotype correlation in
cystic fibrosis: Experience from India. J Cyst Fibros 7, 110–115.
·
Short, D. B., Trotter, K. W., Reczek, D., Kreda, S.M., Bretscher, A., Boucher,
R.C., Stutts, M.J. and Milgram, S.L. (1998) An apical PDZ protein anchors
the cystic fibrosis transmembrane conductance regulator to the cytoskeleton. J
Biol Chem 273(31), 19797-801.
·
Silvis, M. R., Picciano, J. A., Bertrand, C., Weixel, K., Bridges, R. J. and
Bradbury, N. A. (2003) A Mutation in the Cystic Fibrosis Transmembrane
Conductance Regulator Generates a Novel Internalization Sequence and
Enhances Endocytic Rates. The Journal of Biological Chemistry 278(13),
11554–11560.
·
Simon, P., Weiss, F.U. and Sahin-Toth, M. (2002) Hereditary pancreatitis
caused by a novel PRSS1 mutation (Arg-122 à Cys) that alters autoactivation
and autodegradation of cationic trypsinogen. J Biol Chem 277, 5404–10.
·
Slomski, R,, Schloesser, M., Berg, L.P., et al. (1992) Omission of exon 12 in
cystic fibrosis transmembrane conductance regulator (CFTR) gene transcripts.
Hum Genet 89, 615-619.
·
Spence, W.C., Paulus-Thomas, J., Orenstein, D.M., Naylor, E.W. (1993)
Noenatal screening for cystic fibrosis: addition of molecular diagnostics to
increase specificity. Biochem Med Metab Biol 49, 200–11.
·
Spencer, D. A., Venkataraman, M., Higgins, S., Stevenson, K. and Weller,
P.H. (1994) Cystic fibrosis in children from ethnic minorities in the West
Midlands. Respir Med 88, 671-675.
·
Strandvik, B. (2004) Fatty Acid Metabolism in Cystic Fibrosis. N Engl J Med
350, 606-607.
·
Strong, T.V., Wilkinson, D.J., Mansoura, M.K., et al. (1993) Expression of an
abundant alternatively spliced form of the cystic fibrosis transmembrane
conductance regulator (CFTR) gene is not associated with a cAMP-activated
chloride conductance. Hum Mol Genet 2, 225-230.
Department of Zoology, Dr. H.S. Gour Central University, Sagar (M.P.)
72
REFERENCES
·
Thomas, G.R., Forbes, J.R. and Roberts, E.A. (1995) The Wilson disease
gene: spectrum of mutation and their consequence. Nature Genet 9, 210-217.
·
Tizzano, E.F., Chitayat, D., Buchwald, M. (1993) Cell-specific localization of
CFTR mRNA shows developmentally regulated expression in human fetal
tissues. Hum Mol Genet 2, 219-224.
·
Trezise, A.E., Chambers, J.A., Wardle, C.J., Gould, S., Harris, A. (1993)
Expression of cystic fibrosis gene in human foetal tissues. Hum Mol Genet 2,
213-218.
·
Tsui, L.C. and Durie, P. (1997) Genotype and phenotype in cystic fibrosis.
Hosp Pract (Minneap) 32(6), 115-118, 123-119, 134, passim.
·
Tsui, L.C., Buchwald, M., Barker, D., Braman, J.C., Knowlton, R., Schumm,
J.W., Eiberg, H., et al. (1985) Cystic fibrosis locus defined by a genetically
linked polymorphic DNA marker. Science 230, 1054-1057.
·
Van der Ven, K., Messer, L. and Van der Ven, H. (1996) Cystic fibrosis
mutation screening in healthy men with reduced sperm quality. Hum Reprod
11, 513-517.
·
Vankeerberghen, A., Cuppens, H. and Cassiman, J. J. (2002) The cystic
fibrosis transmembrane conductance regulator: an intriguing protein with
pleiotropic functions. J Cystic Fibrosis 1, 13–29.
·
Weiss, F.U., Simon, P., Witt, H., et al. (2003) SPINK1 mutations and
phenotypic expression in patients with pancreatitis associated with
trypsinogen mutations. J Med Genet 40, e40.
·
Weiss, F.U., Simon, P., Bogdanova, N., Mayerle, J., Dworniczak, B., Horst,
J. and Lerch, M.M. (2005) “Complete cystic fibrosis transmembrane
conductance regulator gene sequencing in patients with idiopathic chronic
pancreatitis and controls”. Gut 54(10), 1456–1460.
·
Wennberg, C. and Kucinskas, V. (1994) Low frequency of the delta F508
mutation in Finno-Ugrian and Baltic populations. Human Heredity 44(3),
169–71.
·
Whitcomb, D.C., Gorry, M.C. and Preston, R.A. (1996) Hereditary
pancreatitis is caused by a mutation in the cationic trypsinogen gene. Nat
Genet 14, 141–5.
Department of Zoology, Dr. H.S. Gour Central University, Sagar (M.P.)
73
REFERENCES
·
Wilcken, B., Wiley, V., Sherry, G. and Bayliss, U. (1995) Neonatal screening
for cystic fibrosis: a comparison of two strategies for case detection in 1.2
million babies. J Pediatr 127(6), 965-970.
·
Williams, S. G., Westaby, D., Tanner, M. S. and Mowat, A. P. (1992) Liver
and biliary problems in cystic fibrosis. Br Med Bull 48(4), 877-92.
·
Witt, H., Luck, W. and Hennies, H.C. (2000) Mutations in the gene encoding
the serine protease inhibitor, Kazal type 1 are associated with chronic
pancreatitis. Nat Genet 25, 213–16.
·
Zielenski, J. and Tsui, L. (1995) Cystic Fibrosis: Genotypic and Phenotypic
Variations. Ann Rev Genet 29, 777–807.
·
Zielenski, J., Aznarez, I., Onay, T., Tzounzouris, J., Markiewicz, D. and Tsui,
L-C. (2002) CFTR mutation detection by multiplex heteroduplex (mHET)
analysis on MDE gel. Methods Mol Med 70, 3–19.
·
Zielenski, J., Fujiwara, T. M., Markiewicz, D., Paradis, A. J., Anacleto, A. L.,
Richards, B., Schwartz, R. H., Klinger, K. W., Tsui, L. C. and Morgan, K.
(1993) Identification of the M1101K mutation in the CFTR gene and
complete detection of CF mutations in the Hutterite population. Am J Hum
Genet 52, 609–615.
·
Zielenski, J., Patrizio, P., Corey, M., Handelin, B., Markiewicz, D., Asch, R.
and Tsui, L.C. (1995). CFTR gene variant for patients with congenital absence
of vas deferens. Am J Hum Genet 57, 958–960.
·
Zielenski, J., Rozmahel, R., Bozon, D., Kerem, B., Grzelczak, Z., Riordan, J.
R., Rommens, J. and Tsui, L. C. (1991) Genomic DNA sequence of the cystic
fibrosis transmembrane conductance regulator (CFTR) gene. Genomics 10,
214–218.
Department of Zoology, Dr. H.S. Gour Central University, Sagar (M.P.)
74
REFERENCES
Internet Links:
·
http://en.wikipedia.org/wiki/Cystic_fibrosis and /wiki/CFTR_%28gene%29
·
http://www.cff.org
·
http://adam.about.com/encyclopedia/18135.htm
·
http://hipusa.com/eTools/webmd/A-Z_Encyclopedia/cysticfibrosisbasics.htm
·
http://www.medicalprogress.org/news/newsarchive.cfm?news_id=237
·
http://www.meddean.luc.edu/lumen/meded/elective/pulmonary/cf/cf_f.htm
·
http://learn.genetics.utah.edu/units/disorders/whataregd/cf/
·
http://www.sixtyfiveroses.com
·
http://www.cf.ac.uk/biosi/staff/jacob/teaching/ionchan/ionchan2.html
·
http://www.ambrygen.com/ts/ts.htm
·
http://genes-r-us.uthscsa.edu/
·
www.genetests.org
·
www.genet.sickkids.on.ca/cftr/
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