Results 231 to 240 of about 445,931 (266)

Genetic Variants of Na+,K+‐ATPase Associated With Neurological Disorders: A Systematic Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Neurological disorders encompass a wide range of severe symptoms and manifestations, many of which are associated with genetic variants that affect ionic homeostasis. Na+,K+‐ATPase, a transmembrane enzyme responsible for maintaining electrochemical gradients in cells, plays a crucial role in neuronal excitability and brain function.
Giovana Kummer da Rosa, Leandro Rodrigo Ribeiro, Jéssica Lorena Bariviera, Mauro Schneider Oliveira   +3 more
wiley   +1 more source

Mitochondrial translation termination, recycling, reinitiation, and rescue for in-frame and out-of-frame contexts. [PDF]

Nat Commun
Wakigawa T, Mito M, Fang Q, Itoh Y, Shinkai Y, Iwasaki S.   +5 more
europepmc   +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

Ribosome dynamics at the conserved PGP motif governs 2A peptide-bond-skipping efficiency. [PDF]

Nucleic Acids Res
Wu X, Uematsu S, Wu Y, Qian SB.
europepmc   +1 more source

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley   +1 more source

System level identification and multidimensional analysis of hub genes reveal complex regulatory networks underlying human iPSC differentiation into motor neurons. [PDF]

Biochem Biophys Rep
Sadeghi M, Hadifar S, Ghorbani A.
europepmc   +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

Identification of the Novel HLA-DPA1*01:258 Allele by Third-Generation Sequencing. [PDF]

HLA
Ferru-Clément R, Augustin P, Brossard P, Jollet I.   +3 more
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

The Novel HLA-DQB1*06:03:60 Allele Identified by Next-Generation Sequencing and Confirmed by Nanopore Sequencing. [PDF]

HLA
Harfouch E, Gomes M, Hamdaoui A, Merabet M, Chamillard X.   +4 more
europepmc   +1 more source