Konu "Moleküler Biyoloji ve Genetik" için Dokümanı Olanlar listeleme
Toplam kayıt 36, listelenen: 1-20
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A case report of a rare nonsense ZP1 variant in a patient with oocyte maturation defect
Introduction: Oocyte maturation defect (OOMD) is a rare condition causing female infertility that can be diagnosed during assisted reproduction techniques (ART). OOMD related genes are ZP1, ZP2, ZP3, PANX1, PATL2, TUBB8, ... -
Alport sendromlu 15 olgunun klinik ve moleküler bulguları
Amaç: Alport Sendromu (AS) hematüri, proteinüri, sensörinöral işitme kaybı, göz anomalileri ve ileri yaşta böbrek yetersizliği ilekarakterize ilerleyici böbrek hastalığıdır. Otozomal resesif ve dominant formları COL4A3/COL4A4, ... -
Alterations in Promoter Methylation Status of Tumor Suppressor HIC1, SFRP2, and DAPK1 Genes in Prostate Carcinomas
Hypermethylated genomic DNA is a common feature in tumoral tissues, although the prevalence of this modification remains poorly understood. We aimed to determine the frequency of five tumor suppressor (TS) genes in prostate ... -
Artificial food sweetener aspartame induces stress response in model organism Schizosaccharomyces pombe
Aspartame (APM) is a non-nutritive artificial sweetener that has been widely used in manyproducts since 1981. Molecular studies have found that it alters the expression of tumoursuppressor genes and oncogenes, forms DNA-DNA ... -
Downregulation of NPRL2 in Colon Cancer
Downregulation of NPRL2 in Colon Cancer N. Buyru,1 İ.Hatemi2, İ.Aydin3, B.Yogurtcu1 1 Istanbul University Cerrahpasa Medicine Faculty Medical Biology Department 2 Istanbul University Cerrahpasa Medicine ... -
INVESTIGATION OF COSMC GENE DNA METHYLATION PROFILE AND EXPRESSION LEVEL IN IGA
Galactosyltransferase core-1 beta3-galactosyltransferase-1 (C1GALT1) and core 1 3-galactosyltransferase-specific molecular chaperone (COSMC) are required for the O-glycosylation of the IgA1 hinge region. IgA nephropathy ... -
MECP2 Spektrumundan Etkilenmiş 27 Olgunun Klinik ve Moleküler Bulguları
Giriş: MECP2-ilişkili fenotipler dişilerde tipik/atipik Rett sendromundan (RTT) hafif öğrenme güçlüğüne kadar değişkenlikgöstermekte, erkeklerde genellikle neonatal ensefalopati veya ağır sendromik/nonsendromik bilişsel ... -
Mutational landscape of severe combined immunodeficiency patients from Turkey.
Severe combined immunodeficiency (SCID) has a diverse genetic aetiology, where a clinical phenotype, caused by single and/or multiple gene variants, can give rise to multiple presentations. The advent of next-generation ...