Results 31 to 40 of about 444,809 (263)
Identification and characterization of a homozygous deletion found in ovarian ascites by representational difference analysis [PDF]
, 1999 We have performed representational difference analysis (RDA) on DNA from tumor cells and normal fibroblasts isolated from the ascites of a patient with ovarian cancer. Five of six products of the RDA were homozygously deleted from the tumor DNA.
Perry, P +7 more
core
Diversity of the basic defect of homozygous CFTR mutation genotypes in humans [PDF]
, 2008 Background: Knowledge of how CFTR mutations other than F508del translate into the basic defect in cystic fibrosis (CF) is scarce due to the low incidence of homozygous index cases.Methods: 17 individuals who are homozygous for deletions, missense, stop ...
Blau, H. +31 more
core +1 more source
FEBS Letters, EarlyView.Animals must match their growth rate to available nutrients. We show that in Drosophila larvae, the nutrient‐sensing TOR kinase controls growth by regulating levels of TFAM, a key regulator of mitochondrial function, in the adipose tissue. When nutrients are abundant, high TOR activity suppresses TFAM, lowering mitochondrial bioenergetic activity and ...
Shrivani Sriskanthadevan‐Pirahas +4 more
wiley +1 more source
A frameshift mutation of TMPRSS3 in a Chinese family with non-syndromic hearing loss
Frontiers in Pediatrics, 2022 BackgroundDeafness is the most common sensory defect in humans worldwide. Approximately 50% of cases are attributed to genetic factors, and about 70% are non-syndromic hearing loss (NSHL).ObjectivesTo identify clinically relevant gene variants associated
Jingwen Liang +6 more
doaj +1 more source
FEBS Letters, EarlyView.Obesity raises blood levels of PAI‐1, a protein linked to metabolic dysfunction‐associated steatotic liver disease in people with obesity. In female mice fed a high‐fat diet, partially lowering PAI‐1 led to smaller subcutaneous fat cells and lower liver cholesterol, without changing body weight or insulin sensitivity.
Claudia E. Ramirez Bustamante +10 more
wiley +1 more source
, 2018 Homozygous inversion of the genomic region INV(-500-C1) analyzed at embryonic day E17.
Kazunori Sunadome (5396135) +25 more
core +2 more sources
Efficient method for generating homozygous embryonic stem cells in mice
Journal of Animal Reproduction and Biotechnology, 2022 Parthenogenesis is maternally uniparental reproduction through the embryonic development of oocytes without fertilization. Artificial activation of mature oocytes could generate homozygous haploid embryos with the extrusion of the second polar body ...
Bitnara Kim +4 more
doaj +1 more source
Lysyl oxidase (LOX)‐mediated remodeling of the extracellular matrix
FEBS Letters, EarlyView.The lysyl oxidase (LOX) family of enzymes drives extracellular matrix remodeling by oxidizing collagen, elastin, and fibronectin, promoting covalent cross‐link formation. This activity regulates tissue architecture and mechanical properties, while its dysregulation contributes to fibrosis, cardiovascular disease, glaucoma, connective tissue disorders ...
Fernando Rodríguez‐Pascual +3 more
wiley +1 more source
Revista Brasileira de Hematologia e Hemoterapia, 2007 Hemocromatose é uma das doenças genéticas mais freqüentes no ser humano e uma das causas mais importantes de sobrecarga de ferro. Os objetivos deste estudo foram determinar a freqüência das mutações C282Y, H63D e S65C do gene HFE em doentes brasileiros ...
Rodolfo D. Cançado +5 more
doaj +1 more source
Cerebellar ataxia with normal intellect associated with a homozygous truncating variant in CA8
, 2019 Biallelic pathogenic variants in CA8 cause cerebellar ataxia, mental retardation and dysequilibrium syndrome 3 (CAMRQ3), a rare form of hereditary ataxia characterised by cerebellar hypoplasia/atrophy, variable intellectual disability and often ...
Monique M. Ryan +7 more
core +1 more source