Results 131 to 140 of about 1,974,376 (233)
Synonymous variants among the central Mup genes from different individuals.
, 2016 Synonymous variants among the central Mup genes from different individuals.
Michael J. Sheehan (2551549) +6 more
core +1 more source
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 +5 more
wiley +1 more source
Medical SciencesBackground/Objectives: Serum calcium concentrations have been associated with bone mineral density (BMD), but results seem to depend on sex. Genetic variants in the Ryanodine Receptor1 (RYR1) gene have been previously associated with low BMD in ...
Tania V. López-Pérez +10 more
doaj +1 more source
Function prediction for non-synonymous variants with multiple in silico tools.
, 2016 Function prediction for non-synonymous variants with multiple in silico tools.
Urs Giger (2872643) +3 more
core +1 more source
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 +9 more
wiley +1 more source
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 +5 more
wiley +1 more source
Number of nonsynonymous and synonymous variants identified in APOA1 by apoA-I percentiles.
, 2012 aP-values by Fisher's exact test comparing nonsynonymous (NS) and synonymous (S) variants combined and identified exclusively in the low apoA-I or in the high apoA-I group.
Christiane L. Haase (114867) +3 more
core +1 more source
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 +8 more
wiley +1 more source
Genetic Variation in ADHD‐Related Risk Genes in an Indigenous Population of the Amazon
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT Attention‐Deficit/Hyperactivity Disorder (ADHD) is a highly heritable neurodevelopmental disorder; however, its genetic architecture remains poorly explored in Indigenous populations. This study aimed to analyze and characterize genetic variation in 11 genes (ADGRL3, CDH8, DCC, DUSP6, FOXP1, FOXP2, MEF2C, PCDH7, SEMA6D, SORCS3, and ST3GAL3 ...
Hirlesson Paixão de Matos +11 more
wiley +1 more source
BMC CancerPKCδ is a key isoform in the PKC subgroup of AGC-kinase proteins, known to be involved in various cellular processes. Dysregulation of its expression has been linked to multiple malignancies.
Sameen Zafar +9 more
doaj +1 more source