منظم موصلية التليف الكيسي عبر الغشاء

cystic fibrosis transmembrane conductance regulator
معرفات
أسماء بديلة	channel conductance-controlling ATPase, cAMP-dependent chloride channel, ATP-binding cassette sub-family C member 7, 3.6.3.49, cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7), CFTR, cystic fibrosis transmembrane conductance regulating
معرفات خارجية
تماثلات متسلسلة
	n/a
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	ويكي بيانات
اعرض/عدّل إنسان

منظم موصلية التليف الكيسي عبر الغشاء (بالإنجليزية: Cystic fibrosis transmembrane conductance regulator)‏ ويُدعى اختصارًا CFTR، هو بروتين غشائي وقناة كلوريد في الفقاريات، ويُشفر بواسطة جين CFTR.^[1]^[2]

الجين

الطفرات

التركيب

الموقع والوظيفة

حالات مُرتبطة

المراجع

^ Gadsby DC، Vergani P، Csanády L (2006). "The ABC protein turned chloride channel whose failure causes cystic fibrosis". Nature. ج. 440 ع. 7083: 477–83. Bibcode:2006Natur.440..477G. DOI:10.1038/nature04712. PMC:2720541. PMID:16554808.
^ Rommens JM، Iannuzzi MC، Kerem B، Drumm ML، Melmer G، Dean M، Rozmahel R، Cole JL، Kennedy D، Hidaka N (سبتمبر 1989). "Identification of the cystic fibrosis gene: chromosome walking and jumping". Science. ج. 245 ع. 4922: 1059–65. Bibcode:1989Sci...245.1059R. DOI:10.1126/science.2772657. PMID:2772657.
^ Thiagarajah JR، Verkman AS (2012). "CFTR inhibitors for treating diarrheal disease". Clinical Pharmacology and Therapeutics. ج. 92 ع. 3: 287–90. DOI:10.1038/clpt.2012.114. PMC:3643514. PMID:22850599.

قراءات إضافية

Kulczycki LL، Kostuch M، Bellanti JA (2003). "A clinical perspective of cystic fibrosis and new genetic findings: relationship of CFTR mutations to genotype-phenotype manifestations". Am. J. Med. Genet. A. ج. 116A ع. 3: 262–7. DOI:10.1002/ajmg.a.10886. PMID:12503104.
Vankeerberghen A، Cuppens H، Cassiman JJ (2002). "The cystic fibrosis transmembrane conductance regulator: an intriguing protein with pleiotropic functions". J. Cyst. Fibros. ج. 1 ع. 1: 13–29. DOI:10.1016/S1569-1993(01)00003-0. PMID:15463806.
Tsui LC (1992). "Mutations and sequence variations detected in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: a report from the Cystic Fibrosis Genetic Analysis Consortium". Hum. Mutat. ج. 1 ع. 3: 197–203. DOI:10.1002/humu.1380010304. PMID:1284534.
McIntosh I، Cutting GR (1992). "Cystic fibrosis transmembrane conductance regulator and the etiology and pathogenesis of cystic fibrosis". FASEB J. ج. 6 ع. 10: 2775–82. PMID:1378801.
Drumm ML، Collins FS (1993). "Molecular biology of cystic fibrosis". Mol. Genet. Med. ج. 3: 33–68. DOI:10.1016/b978-0-12-462003-2.50006-7. PMID:7693108.
Kerem B، Kerem E (1996). "The molecular basis for disease variability in cystic fibrosis". Eur. J. Hum. Genet. ج. 4 ع. 2: 65–73. PMID:8744024.
Devidas S، Guggino WB (1997). "CFTR: domains, structure, and function". J. Bioenerg. Biomembr. ج. 29 ع. 5: 443–51. DOI:10.1023/A:1022430906284. PMID:9511929.
Nagel G (1999). "Differential function of the two nucleotide binding domains on cystic fibrosis transmembrane conductance regulator". Biochim. Biophys. Acta. ج. 1461 ع. 2: 263–74. DOI:10.1016/S0005-2736(99)00162-5. PMID:10581360.
Boyle MP (2000). "Unique presentations and chronic complications in adult cystic fibrosis: do they teach us anything about CFTR?". Respir. Res. ج. 1 ع. 3: 133–5. DOI:10.1186/rr23. PMC:59552. PMID:11667976.{{استشهاد بدورية محكمة}}: صيانة الاستشهاد: دوي مجاني غير معلم (link)
Greger R، Schreiber R، Mall M، Wissner A، Hopf A، Briel M، Bleich M، Warth R، Kunzelmann K (2001). "Cystic fibrosis and CFTR". Pflugers Arch. 443 Suppl 1: S3-7. DOI:10.1007/s004240100635. PMID:11845294.
Bradbury NA (2001). "cAMP signaling cascades and CFTR: is there more to learn?". Pflugers Arch. 443 Suppl 1: S85-91. DOI:10.1007/s004240100651. PMID:11845310.
Dahan D، Evagelidis A، Hanrahan JW، Hinkson DA، Jia Y، Luo J، Zhu T (2001). "Regulation of the CFTR channel by phosphorylation". Pflugers Arch. 443 Suppl 1: S92-6. DOI:10.1007/s004240100652. PMID:11845311.
Cohn JA، Noone PG، Jowell PS (2002). "Idiopathic pancreatitis related to CFTR: complex inheritance and identification of a modifier gene". J. Investig. Med. ج. 50 ع. 5: 247S–255S. PMID:12227654.
Schwartz M (2003). "[Cystic fibrosis transmembrane conductance regulator (CFTR) gene: mutations and clinical phenotypes]". Ugeskrift for Læger. ج. 165 ع. 9: 912–6. PMID:12661515.
Wong LJ، Alper OM، Wang BT، Lee MH، Lo SY (2003). "Two novel null mutations in a Taiwanese cystic fibrosis patient and a survey of East Asian CFTR mutations". Am. J. Med. Genet. A. ج. 120A ع. 2: 296–8. DOI:10.1002/ajmg.a.20039. PMID:12833420.
Cuppens H، Cassiman JJ (2004). "CFTR mutations and polymorphisms in male infertility". Int. J. Androl. ج. 27 ع. 5: 251–6. DOI:10.1111/j.1365-2605.2004.00485.x. PMID:15379964.
Cohn JA، Mitchell RM، Jowell PS (2005). "The impact of cystic fibrosis and PSTI/SPINK1 gene mutations on susceptibility to chronic pancreatitis". Clin. Lab. Med. ج. 25 ع. 1: 79–100. DOI:10.1016/j.cll.2004.12.007. PMID:15749233.
Southern KW، Peckham D (2004). "Establishing a diagnosis of cystic fibrosis". Chron Respir Dis. ج. 1 ع. 4: 205–10. DOI:10.1191/1479972304cd044rs. PMID:16281647.
Kandula L، Whitcomb DC، Lowe ME (2006). "Genetic issues in pediatric pancreatitis". Curr Gastroenterol Rep. ج. 8 ع. 3: 248–53. DOI:10.1007/s11894-006-0083-8. PMID:16764792.
Marcet B، Boeynaems JM (2006). "Relationships between cystic fibrosis transmembrane conductance regulator, extracellular nucleotides and cystic fibrosis". Pharmacol. Ther. ج. 112 ع. 3: 719–32. DOI:10.1016/j.pharmthera.2006.05.010. PMID:16828872.
Wilschanski M، Durie PR (2007). "Patterns of GI disease in adulthood associated with mutations in the CFTR gene". Gut. ج. 56 ع. 8: 1153–63. DOI:10.1136/gut.2004.062786. PMC:1955522. PMID:17446304.

هذه بذرة مقالة عن جين على كروموسوم 7 بحاجة للتوسيع. فضلًا شارك في تحريرها.

[The_ABC_protein_turned_chloride_channel_whose_failure_causes_cystic_fibrosis-1] Gadsby DC، Vergani P، Csanády L (2006). "The ABC protein turned chloride channel whose failure causes cystic fibrosis". Nature. ج. 440 ع. 7083: 477–83. Bibcode:2006Natur.440..477G. DOI:10.1038/nature04712. PMC:2720541. PMID:16554808.

[pmid2772657-2] Rommens JM، Iannuzzi MC، Kerem B، Drumm ML، Melmer G، Dean M، Rozmahel R، Cole JL، Kennedy D، Hidaka N (سبتمبر 1989). "Identification of the cystic fibrosis gene: chromosome walking and jumping". Science. ج. 245 ع. 4922: 1059–65. Bibcode:1989Sci...245.1059R. DOI:10.1126/science.2772657. PMID:2772657.

[pmid22850599-3] Thiagarajah JR، Verkman AS (2012). "CFTR inhibitors for treating diarrheal disease". Clinical Pharmacology and Therapeutics. ج. 92 ع. 3: 287–90. DOI:10.1038/clpt.2012.114. PMC:3643514. PMID:22850599.

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