Results 71 to 80 of about 660,576 (241)

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

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

A Novel Synonymous Variant of PAX2 in Monochorionic Diamniotic Twins With Bilateral Renal Agenesis: A Case Report and Literature Review

Molecular Genetics & Genomic Medicine
Background Paired Box 2 (PAX2, NM_000278.5) encodes paired box gene 2, one of many human homologs of the Drosophila melanogaster gene prd. PAX2‐related disorder is an autosomal dominant disorder associated with renal and eye abnormalities.
Wencong Yao, Bocheng Xu, Hao Wang, Shanling Liu, He Wang, Jingqun Mai, Xihan Wang, Xin Chen, Zhu Zhang   +8 more
doaj   +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

SNPs in coat colour genes in goats

Italian Journal of Animal Science, 2010
Coat colour genes are useful candidates for breeds traceability of farm animals. To identify SNPs in genes involved in pigmentation in goat, we carried out in silico studies in human, mouse and cattle.We analysed 41 genes and we found: 88 SNPs in mouse ...
L. Nicoloso, P. Crepaldi
doaj   +1 more source

Estimation of mutation and synonymous divergence rates in Plasmodium vivax.

, 2013
Estimation of mutation and synonymous divergence rates in Plasmodium vivax.
Jane M. Carlton (47661), Hema Joshi (33953), Surendra K. Prajapati (460909), M. Alam Rizvi (460910)   +3 more
core   +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

Clinico-genomic study reveals association of dengue virus genome high frequency mutations with dengue disease severity

Scientific Reports
Transmission of the dengue virus (DENV) places a huge burden on public health in several endemic regions. Like other RNA viruses, mutations in the DENV genome greatly governs its virulence, transmissibility, and interaction with the host immune system ...
Varsha Ravi, Md Imran, Kriti Khare, Pallavi Mishra, Ramakant Mohite, Kanika, Md Abuzar Khan, Aparna Swaminathan, Aanchal Yadav, Sristi Sinha, Richa Shukla, Partha Chattopadhyay, Jyoti Soni, Ranjeet Maurya, Tavpritesh Sethi, Bansidhar Tarai, Sandeep Budhiraja, Rajesh Pandey   +17 more
doaj   +1 more source

Single nucleotide polymorphisms on Cholecystokinin B Receptor gene as a candidate gene for crowing in Pelung chickens.

Journal of Advanced Veterinary and Animal Research
Objective: This study aims to explore mutation based on single nucleotide polymorphism (SNP) in the Cholecystokinin B receptor (CCKBR) gene of Pelung chickens.
Indrawati Yudha Asmara, Nena Hilmia, Dani Garnida.   +2 more
doaj   +1 more source