cancer:an overview.Nat Rev Gastroenterol Hepatol,2009.6(12):p.699‑708.)。BRCA1、BRCA2、ATM、PALB2、CDKN2A、 MLH1和MSH2、STK11和TP53基因的胚系突变是家族性胰腺癌的主要易感基因(Kastrinos, F.,et al.,Risk ofpancreatic cancer in families with Lynch syndrome.Jama, 2009.302(16):p.1790‑5....
The emergence of CFTR-assist therapies may potentially play a future role in the treatment of CFTR-mutation associated pancreatitis. 展开 关键词: Cystic fibrosis Cystic fibrosis transmembrane conductance regulator Pancreatitis Pancreatic insufficiency Pancreatic sufficiency Cancer DOI: 10.1016/j.jcf.2012.05...
(GPI) anchor deficiency, typically leads to multiple congenital anomalies-hypotonia-seizures syndrome. But, the link between PIGN and epilepsy or paroxysmal non-kinesigenic dyskinesia (PNKD) is not well-described. This study reported an individual with PIGN mutation causing developmental and ...
The most common mutation in CF patient is DF508 and the patients have increased risk in developing gastrointestinal tumors. To explore the etiology of high cancer risk in DF508-CF patients, we have derived mouse DF508-CFTR embryonic stem (ES) cells and use it as a novel in vitro model ...
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The M348V mutation was found in a woman diagnosed with chronic pancreatitis at the age of 63. Following drainage of a pseudocyst the patient suffered from recurrent episodes of pancreatitis and later died from breast cancer. The patient with the A1087P mutation was recruited to the study as a...
F508 amino acid deletion mutation of CFTR gene in Korean lung cancer patients. Jung Y,Ha H,Jung SH,Lee MG,Lee HW,Yoon J,Choi JW,Yeh BI. Experimental and Molecular Medicine . 2001F508 amino acid deletion mutation of CFTR gene in Korean lung cancer patients. Jung Y,Ha H,Jung S H,Lee...
Bayesian risk assessment for autosomal recessive diseases: Fetal echogenic bowel with one or no detectable CFTR mutation. J Med Genet 2004;41:e70.Ogino S, Wilson RB, Grody WW: Bayesian risk assessment for autosomal recessive diseases: fetal echogenic bowel with one or no detectable CFTR mutation....
F508 amino acid deletion mutation of CFTR gene in Korean lung cancer patients. Jung Y,Ha H,Jung SH,Lee MG,Lee HW,Yoon J,Choi JW,Yeh BI. Experimental and Molecular Medicine . 2001F508 amino acid deletion mutation of CFTR gene in Korean lung cancer patients. Jung Y,Ha H,Jung S H,Lee...
S3.2. Experience with DGGE based mutation screening of the CFTR gene in CF and CBAVD patientsHereditary non-polyposis colorectal cancer is an autosomal dominant inherited disorder that predisposes its carriers to an almost 100% lifetime risk of cancer, in particular colorectal and endometrial cancer....