Results 181 to 190 of about 714,661 (305)

LHCGR Missense Mutation [PDF]

, 2020
openaire   +1 more source

Extending the ATP9A‐Related Phenotypic Spectrum: Indication of Schizophrenia Susceptibility

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT ATP9A, which belongs to the P4‐ATPase family of proteins, is involved in the efficient transport of vesicles from the Golgi apparatus to the plasma membrane, as well as the release of extracellular vesicles from human cells. In 2021, a loss‐of‐function variant of this gene was identified as being associated with a recessive neurodevelopmental ...
Camille Verebi, Céline Louveau, Bertrand Diebold, Natacha Gaitch, Arnaud Hubas, Martine Gautier Vallee, Jérôme Champ, Anais L'Haridon, Sophie Georgin Lavialle, Boris Chaumette, Thierry Bienvenu   +10 more
wiley   +1 more source

WFS1-related isolated diabetes induced by a WFS1 missense mutation: focus on the isolated diabetes phenotype. [PDF]

Orphanet J Rare Dis
Huang M, Wei Q, Qin Y, Qin L, Shao Y, Wang S, Qu X, Yang T, Zhang M.   +8 more
europepmc   +1 more source

Erratum: Biofunctional study on chemoresistance in esophageal squamous carcinoma cells induced by missense mutation of <i>NOTCH1 p.E450K</i>. [PDF]

J Thorac Dis
Editorial Office.
europepmc   +1 more source

Comparative analysis of TP53 gene in Tupaia belangeri subspecies (Tupaia belangeri yaoshanensis vs. Tupaia belangeri chinensis) and identification of mutations in spontaneous tumor cases

Animal Models and Experimental Medicine, EarlyView.
This study provides the first evidence of natural TP53 variation between tree shrew subspecies and identifies somatic TP53 mutations in spontaneous tree shrew sarcomas. The high structural and functional conservation of tree shrew p53 with humans supports its utility as a relevant model for TP53‐related cancer research.
Yingying Cao, Haibo Tang, Liang Liang, Jing Leng, Weijian Huang   +4 more
wiley   +1 more source

AASLD practice guidance on drug, herbal, and dietary supplement–induced liver injury

, 2022
Hepatology, EarlyView.
Robert J. Fontana, Iris Liou, Adrian Reuben, Ayako Suzuki, M. Isabel Fiel, William Lee, Victor Navarro   +6 more
wiley   +1 more source

Kdf1 missense mutation caused enamel defects by disrupting cell adhesion and Hippo-YAP signaling in dental epithelium. [PDF]

Int J Oral Sci
Li P, Zeng R, Xue J, Song Y, Wu J, Zeng B, Lin L, Yu D, Zhao W.   +8 more
europepmc   +1 more source

Missense-Mutation [PDF]

, 2018
openaire   +1 more source

A rhesus macaque model of α‐dystroglycanopathy caused by a POMT1 splice altering variant

Animal Models and Experimental Medicine, EarlyView.
Rhesus macaques homozygous for a naturally occurring spice altering variant in the POMT1 gene develop lissencephaly, microphthalmia, and muscular contracture. The presentation models severe presentation of the human Walker‐Warburg syndrome. Abstract Background Biallelic mutations in genes associated with α‐dystroglycan glycosylation manifest in a ...
Anya Nordlund, Brian LaMendola, Nathan P. Crilly, Seth Kittle, Betsy M. Ferguson, Anne D. Lewis, Jeff Wall, Samuel M. Peterson   +7 more
wiley   +1 more source

High-Dose Furmonertinib Management of Advanced NSCLC Harboring an EGFR Exon 14 Missense Mutation: A Case Report and Literature Review. [PDF]

Am J Case Rep
Luo JY, Xiang J, Hong XL, Wang Z.
europepmc   +1 more source