Listar por tema "Biochemistry & Molecular Biology; Genetics & Heredity"
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Linked homozygous BMPR1B and PDHA2 variants in a consanguineous family with complex digit malformation and male infertility
(NATURE PUBLISHING GROUP, 2018)In affected members of a consanguineous family, a syndrome, which is concurrence of set of medical signs, is often observed and commonly assumed to have arisen from pleiotropy, i.e., the phenomenon of a single gene variant ... -
Mutation screening and tissue expression patterns implicate SRY-box 14 (SOX14) in human eye and brain developmental anomalies
(NATURE PUBLISHING GROUP, 2019)Anophthalmia, microphthalmia and coloboma (AMC) are developmental eye anomalies which occur in approximately 3 in 10,000 births. They are a genetically heterogeneous group of conditions, with over 300 genes having been ... -
The inhibition of CTGF/CCN2 activity improves muscle and locomotor function in a murine ALS model
(OXFORD UNIV PRESS, 2018)Amyotrophic lateral sclerosis (ALS) is a devastating adult-onset progressive neurodegenerative disease characterized by upper and lower motoneuron degeneration. A total of 20% of familial ALS (fALS) cases are explained by ...