Results 31 to 40 of about 473,993 (259)
, 2011 Each line represents use of distinct data–inclusion or exclusion of Sib1 genotypes, and use of population-specific or global allele frequency data.
Brian Schmidt (95162) +3 more
core +1 more source
Forbes Tıp DergisiObjective: Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disease characterized by self-limited fever and polyserositis. The disease is associated with mutations in the Mediterranean fever (MEFV) gene, of which more than 700 variants
Melda TAŞ +2 more
doaj +1 more source
The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46,XY males without adrenal insufficiency [PDF]
, 2009 OBJECTIVE. Hypospadias is a frequent congenital anomaly but in most cases an underlying cause is not found. Steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) is a key regulator of human sex development and an increasing number of SF-1 (NR5A1) mutations are ...
Mazen, I. +9 more
core
RNA‐related functions of BRCA2 in transcription, replication, and genome stability
FEBS Letters, EarlyView.Beyond its role in homologous recombination, BRCA2 regulates R‐loop homeostasis, DNA–RNA hybrid resolution, RNA polymerase II dynamics, and transcriptional activation. Disruption of any of these functions can contribute to genome instability, inflammatory signaling, and tumorigenesis. BRCA2 is a central tumor suppressor protein best known for its roles
Lucia Alvaro‐Aranda +2 more
wiley +1 more source
Hypodontia and WNT10A mutation: A case report [PDF]
Stomatološki glasnik Srbije, 2018 Tooth agenesis is common dentofacial malformation in humans. Its etiology is still not clear. Hypodontia has been regarded as a multifactorial condition influenced by gene function, environmental interaction and developmental timing.
Živković-Sandić Marija +3 more
doaj
Simultaneous quantitative and allele-specific expression analysis with real competitive PCR
BMC Genetics, 2004 Background For a diploid organism such as human, the two alleles of a particular gene can be expressed at different levels due to X chromosome inactivation, gene imprinting, different local promoter activity, or mRNA stability.
Braun Andreas +4 more
doaj +1 more source
Tumour–host interactions in Drosophila: mechanisms in the tumour micro‐ and macroenvironment
Molecular Oncology, EarlyView.This review examines how tumour–host crosstalk takes place at multiple levels of biological organisation, from local cell competition and immune crosstalk to organism‐wide metabolic and physiological collapse. Here, we integrate findings from Drosophila melanogaster studies that reveal conserved mechanisms through which tumours hijack host systems to ...
José Teles‐Reis, Tor Erik Rusten
wiley +1 more source
Frontiers in MedicineCarbamoyl-phosphate synthetase 1 (CPS1) deficiency is an autosomal recessive congenital urea cycle disorder (UCD) characterized by hyperammonemia. The recipients of liver transplantation (LT) for UCD are often children, and the potential donors are often
Toshihiko Kakiuchi +3 more
doaj +1 more source
Plants, 2023 The agronomic potential of glutamate dehydrogenase 2 (GDH2) in maize kernel production was investigated by examining the impact of a mutation on the corresponding gene.
Thérèse Tercé-Laforgue +5 more
doaj +1 more source
PANoptosis in the pathogenesis of myelodysplastic syndromes
Molecular Oncology, EarlyView.PANoptosis, a combination of three types of programmed cell death, is mediated by a large protein complex called a PANoptosome. In healthy bone marrow hematopoietic cells, PANoptosis is restricted by inhibitory signaling. In MDS, bone marrow cells become sensitive to the PANoptotic stimuli due to the aberrant inactivation of inhibitory signaling or ...
Rohit Thalla +4 more
wiley +1 more source