Journal of Pure and Applied Microbiology, 2018 Growth differentiation factor 9 (GDF9) is play a critical role in ovarian follicular development and ovulation rate. The present research was performed to investigate the correlation between single nucleotide polymorphism (SNP) of GDF9 gene and ...
H. Al-Mutar, L. Younis, H. Khawla
doaj +1 more source
Oral health in two heterozygote female twins with congenital lactic acidosis [PDF]
, 2017 Introduction: Congenital lactic acidosis (CLA) is a rare disease caused by mutations in Mithocondrial DNA (mtDNA), which affects the ability of cells to use energy that causes accumulation of lactic acid in the body.
GUERRA, Fabrizio +4 more
core +1 more source
Scientific Reports, 2022 The present study was carried out, for the first time, to evaluate the association of rs2268458 polymorphism, biochemical and environmental factors on hypothyroid and hyperthyroid disorders in thyroid patients and healthy individuals in Yazd province ...
Fahime Sadat Naghibi +2 more
doaj +1 more source
EPHX1 and GSTP1 polymorphisms are associated with COPD risk: a systematic review and meta-analysis
Frontiers in Genetics, 2023 Background: Chronic obstructive pulmonary disease (COPD) affects approximately 400 million people worldwide and is associated with high mortality and morbidity.
Qinjun Yang +12 more
doaj +1 more source
No more time to stay ‘single’ in the detection of Anisakis pegreffii, A. simplex (s. s.) and hybridization events between them: a multi-marker nuclear genotyping approach [PDF]
, 2016 A multi-marker nuclear genotyping approach was performed on larval and adult specimens of Anisakis spp. (N = 689) collected from fish and cetaceans in allopatric and sympatric areas of the two species Anisakis pegreffii and Anisakis simplex (s.
Acerra, V. +7 more
core +2 more sources
High resolution melting analysis: a rapid screening and typing tool for common β-thalassemia mutation in Chinese population. [PDF]
PLoS ONE, 2014 β-thalassemia is a common inherited disorder worldwide including southern China, and at least 45 distinct β-thalassemia mutations have been identified in China.
Min Lin +19 more
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Poor Outcome in a Mitochondrial Neurogastrointestinal Encephalomyopathy Patient with a Novel TYMP Mutation: The Need for Early Diagnosis. [PDF]
, 2012 Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a devastating autosomal recessive disorder due to mutations in TYMP, which cause loss of function of thymidine phosphorylase (TP), nucleoside accumulation in plasma and tissues and ...
Bax, BE +9 more
core +3 more sources
PLoS Genetics, 2007 Double muscling is a trait previously described in several mammalian species including cattle and sheep and is caused by mutations in the myostatin (MSTN) gene (previously referred to as GDF8). Here we describe a new mutation in MSTN found in the whippet
Dana S. Mosher +6 more
semanticscholar +1 more source
Analysis of the mutations in exon 10 of MEFV gene in patients with premature coronary heart disease in west Azerbaijan province of Iran [PDF]
Journal of Cardiovascular and Thoracic Research, 2018 Introduction: Premature coronary heart disease (PCHD) affects public health and leads to death. PCHD has several genetic and environmental risk factors. The aim of this study was to analysis of the mutations in exon 10 of MEFV gene in patients with PCHD ...
Morteza Bagheri +7 more
doaj +1 more source
Orphanet Journal of Rare Diseases, 2014 BackgroundNeurologic impairments in female heterozygotes for X-linked Adrenoleukodystrophy (X-ALD) are poorly understood. Our aims were to describe the neurological and neurophysiological manifestations of a cohort of X-ALD heterozygotes, and to ...
C. Habekost +10 more
semanticscholar +1 more source