Results 131 to 140 of about 1,506,824 (383)
Three Novel Mutations in the NPHS1 Gene in Vietnamese Patients with Congenital Nephrotic Syndrome
Case Reports in Genetics, 2017 Congenital nephrotic syndrome, a rare and severe disease, is inherited as an autosomal recessive trait. The disease manifests shortly after birth and occurs predominantly in families of Finnish origin but has now been observed in all countries and races.
Thi Kim Lien Nguyen +5 more
doaj +1 more source
Advanced Science, EarlyView.Nonsyndromic orofacial clefts (NSOFCs) are the most common craniofacial defects. Exome sequencing of 214 sporadic cases sheds new light on its genetic architecture and identifies many candidate pathogenic variants. Furthermore, functional studies establish BOC as a novel causal gene and reveal an unusual two‐locus model of inheritance via the epistatic
Qing He +16 more
wiley +1 more source
Advanced Science, EarlyView.The study identifies a novel circular RNA derived from the TP53 gene (circTP53), which is upregulated in HNSCC and correlates with poor patient prognosis. It demonstrates that circTP53 promotes HNSCC progression by interacting with USP10, stabilizing both proteins, enhancing deubiquitination of p53, and thereby influencing tumor growth, with its ...
Yin Wang +11 more
wiley +1 more source
Accumulation of driver and passenger mutations during tumor progression [PDF]
, 2009 Major efforts to sequence cancer genomes are now occurring throughout the world. Though the emerging data from these studies are illuminating, their reconciliation with epidemiologic and clinical observations poses a major challenge. In the current study,
B. Vogelstein +32 more
core +4 more sources
BMC Genetics, 2013 BackgroundA genome wide association study for litter size in Norwegian White Sheep (NWS) was conducted using the recently developed ovine 50K SNP chip from Illumina.
D. I. Våge +4 more
semanticscholar +1 more source
A Family with A Missense Mutation in the SCN5A Gene
Korean Circulation Journal, 2003 Brugada syndrome, an autosomal dominantly inherited form of ventricular fibrillation, is characterized by ST- segment elevation in leads V1-3 and right bundle-branch block on surface electrocardiogram. It is caused by mutations in the cardiac sodium channel gene, SCN5A, and to the best of our knowledge, there has been no report of this mutation in ...
Yong Bock Choi +8 more
openaire +2 more sources
Advanced Science, EarlyView.This study establishes a diesel engine exhaust (DEE)‐induced malignant transformation model in bronchial epithelial cells. Whole genome sequencing（WGS） and RNA‐seq reveal DEE‐induced mutational signatures and gene expression profiles. Mechanistically, DEEaffect polymerase epsilon (POLE) and mismatch repair, driving genomic instability and promoting ...
Pimei Zhang +8 more
wiley +1 more source
Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas [PDF]
, 2013 Multiple osteochondromas is an autosomal dominant skeletal disorder characterized by the formation of multiple cartilage-capped tumours. Two causal genes have been identified, EXT1 and EXT2, which account for 65% and 30% of cases, respectively.
Anton, J. +14 more
core +1 more source
CanDrA: Cancer-Specific Driver Missense Mutation Annotation with Optimized Features
PLoS ONE, 2013 Driver mutations are somatic mutations that provide growth advantage to tumor cells, while passenger mutations are those not functionally related to oncogenesis.
Yong Mao +5 more
semanticscholar +1 more source
Advanced Science, EarlyView.In SETD2‐mutant ccRCC, the original LEDGF recognition of the H3K36me3 regulatory axis no longer exists. LEDGF interacts with CARM1‐dependent H3R17me2a regulating the transcription of key enzymes in the de novo synthesis pathway. The abnormally elevated LEDGF leads to the accumulation of purine nucleotides in SETD2‐mutant ccRCC, thereby satisfying the ...
Yuwei Zhang +11 more
wiley +1 more source