Results 31 to 40 of about 714,661 (305)
A novel mutation in the VHL gene in a Chinese family with von Hippel-Lindau disease
BMC Medical Genetics, 2018 Background Von Hippel-Lindau (VHL) disease is an autosomal dominant inherited cancer syndrome, and VHL is identified as a tumor suppressor gene. The main objective of this study was to identify disease-causing mutations in a Chinese family affected with ...
Xing Wu +6 more
doaj +1 more source
Molecular Medicine, 2023 Background Bladder cancer (BCa) is the most common malignant tumor of the urinary system, with transitional cell carcinoma (TCC) being the predominant type.
Mayao Luo +5 more
doaj +1 more source
An alternate translation initiation site circumvents an amino-terminal DAX1 nonsense mutation leading to a mild form of X-linked adrenal hypoplasia congenita [PDF]
, 2003 Mutations in DAX1 [dosage-sensitive sex reversal-adrenal hypoplasia congenita (AHC) critical region on the X chromosome gene 1; NROB1] cause X-linked AHC, a disease characterized by primary adrenal failure in infancy or childhood and reproductive ...
Beck-Peccoz, P +15 more
core +1 more source
PI3K: Missense mutation motivates malignancy [PDF]
Cancer Biology & Therapy, 2004 Commentary to: The PIK3CA Gene is Mutated with High Frequency in Human Breast Cancers Kurtis E. Bachman, Pedram Argani, Yardena Samuels, Natalie Silliman, Janine Ptak, Steve Szabo, Hiroyuki Konishi, Bedri Karakas, Brian G. Blair, Clarence Lin, Brock A. Peters, Victor E.
Valerie Stone, Hawthorne, Dihua, Yu
openaire +2 more sources
Lower Limb Radiology of Distal Myopathy due to the S60F Myotilin Mutation [PDF]
, 2009 Distal myopathies are a clinically and genetically heterogenous group of disorders in which the distal limb musculature is selectively or disproportionately affected.
Birchall, Daniel +8 more
core +1 more source
A Missense Mutation in CHD4 Disrupts Cardiac Development [PDF]
, 2021 Nearly half of cardiac malformations, the leading cause of infant mortality in the United States, are of unknown etiology. Mutations in the Chromodomain Helicase DNA-binding protein 4 (CHD4), the core catalytic component of the Nucleosome Remodeling and ...
Scialdone, Angelique
core +1 more source
Mutator phenotypes of common polymorphisms and missense mutations in MSH2 [PDF]
Current Biology, 1999 Hereditary non-polyposis colorectal cancer (HNPCC) is associated with germline mutations in the DNA mismatch repair gene hMSH2 [1], the human homologue of the Escherichia coli MutS gene. These are mostly nonsense, frameshift or deletion mutations that result in loss of intact protein and complete inactivation of DNA mismatch repair.
Drotschmann, Karin +2 more
openaire +2 more sources
Phenylketonuria missense mutations in the Mediterranean
Genomics, 1991 Two missense mutations have been identified in the phenylalanine hydroxylase (PAH) genes of an Italian phenylketonuria (PKU) patient. Both mutations occurred in exon 7 of the PAH gene, resulting in the substitution of Trp for Arg at amino acid 252 (R252W) and of Leu for Pro (P281L) at amino acid 281 of the protein.
Y, Okano +8 more
openaire +2 more sources
, 2020 Pituitary stalk interruption syndrome (PSIS) is characterized by the association of an absent or thin pituitary stalk, an absent or hypoplastic anterior pituitary lobe and an ectopic posterior pituitary (EPP) lobe.
Ziqin Liu, Xiaobo Chen
core +1 more source
Analyzing Effects of Naturally Occurring Missense Mutations [PDF]
Computational and Mathematical Methods in Medicine, 2012 Single-point mutation in genome, for example, single-nucleotide polymorphism (SNP) or rare genetic mutation, is the change of a single nucleotide for another in the genome sequence. Some of them will produce an amino acid substitution in the corresponding protein sequence (missense mutations); others will not.
Zhe Zhang +3 more
openaire +3 more sources