Results 81 to 90 of about 771,131 (233)

Severe Phenotype in an Indian Family With Progressive Pseudorheumatoid Arthropathy of Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive pseudorheumatoid arthropathy of childhood (PPAC) is a rare autosomal recessive progressive condition that affects the cartilage of joints and bones. The symptoms of PPAC include stiffness of the joints, bony swelling of the toes and fingers, short stature, kyphosis, and muscle weakness.
Narinder Singh, Arpita Neogi, Liliane H. Gibbs, Jagdish Soni, Elizabeth Chao, Virginia Kimonis   +5 more
wiley   +1 more source

Genotype–Phenotype Correlations of Monoallelic PFIC Variants in Pediatric Liver Disease: A Multicenter Retrospective Cohort Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC‐associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty.
Brett J. Hoskins, Tiziano Pramparo, Chaowapong Jarasvaraparn, Michael J. Wilsey, Voytek Slowik, Lakshmi Kunam, Janis M. Stoll, Ruben E. Quiros‐Tejeira, Simon Lam, Wikrom Karnsakul   +9 more
wiley   +1 more source

Genetic Variations of Three Kazakhstan Strains of the SARS-CoV-2 Virus

Viruses
Prompt determination of the etiological agent is important in an outbreak of pathogens with pandemic potential, particularly for dangerous infectious diseases.
Bekbolat Usserbayev, Kulyaisan T. Sultankulova, Yerbol Burashev, Aibarys Melisbek, Meirzhan Shirinbekov, Balzhan S. Myrzakhmetova, Asankadir Zhunushov, Izat Smekenov, Aslan Kerimbaev, Sergazy Nurabaev, Olga Chervyakova, Nurlan Kozhabergenov, Lesbek B. Kutumbetov   +12 more
doaj   +1 more source

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto, Céline Huber, Clément Paya, Isabelle Audo, Nathalie Boddaert, Valérie Cormier‐Daire   +5 more
wiley   +1 more source

Transcriptional Effects of Adaptive Synonymous Mutations in Pseudomonas fluorescens

, 2018
Synonymous mutations have traditionally been thought to have no significant effect on fitness. However, a growing body of recent research has shown that this is not always the case. In an experimentally evolved population of Pseudomonas fluorescens grown
McCloskey, Nicholas
core   +1 more source

Sequencing of Lp-PLA2-encoding PLA2G7 gene in 2000 Europeans reveals several rare loss-of-function mutations. [PDF]

, 2011
Elevated plasma levels of lipoprotein-associated phospholipase A(2) (Lp-PLA2) activity have been shown to be associated with increased risk of coronary heart disease and an inhibitor of this enzyme is under development for the treatment of that condition.
Bacanu, S.A., E S Manas, Kong, X., Aponte, J., Manas, ES, S-A Bacanu, Cardon, L., Song, K, Nelson, MR, K Song, J Aponte, X Kong, Whittaker, JC, M R Nelson, Manas, E.S., Yuan, X., D M Waterworth, Whittaker, J.C., Kong, X, Cardon, L, Waterworth, DM, Yuan, X, L Cardon, Mooser, V.E., X Yuan, Song, K., Aponte, J, Bacanu, S-A, Nelson, M.R., Mooser, VE, J C Whittaker, Waterworth, D.M., V E Mooser   +32 more
core   +1 more source

Dual Aberrant Splicing Caused by an Apparently Missense CHD7 Variant, c.5273A>G (p.Asp1758Gly), in CHARGE Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome is a rare congenital disorder primarily attributed to heterozygous pathogenic variants of the CHD7 gene. Most pathogenic CHD7 variants are loss‐of‐function (LoF) variants, whereas the interpretation of missense variants remains challenging in the absence of functional evidence for their pathogenicity.
Takashi Okuno, Tatsuto Shimizu, Aiko Igarashi, Kazumi Ikeda, Masamichi Ikawa, Sumihito Togi, Hiroki Ura, Yo Niida, Katsutsugu Umeda   +8 more
wiley   +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

Systematic pathway‐level analysis defines conserved transcriptional divergence between primary lung tumors and cell line models

Animal Models and Experimental Medicine, EarlyView.
Lung cancer cell lines diverge substantially from primary tumors at the transcriptional level. Using single‐sample gene set enrichment analysis and L1‐penalized feature selection across TCGA‐LUAD and CCLE‐LUAD, we identified five Hallmark pathways (E2F targets, G2M checkpoint, IFNγ response, coagulation, and EMT) that discriminated primary tumors from ...
Pritam Bera, Rajesh Raju, Debodipta Das
wiley   +1 more source

The Fitness Effects of Synonymous Mutations in DNA and RNA Viruses

, 2011
Despite being silent with respect to protein sequence, synonymous nucleotide substitutions can be targeted by natural selection directly at the DNA or RNA level.
Rafael Sanjuán, Pilar Domingo-Calap, Domingo-Calap, Pilar, José M. Cuevas, Sanjuán, Rafael, Cuevas, José M.   +5 more
core   +1 more source