Centers for Mendelian Genomics: A decade of facilitating gene discovery
Purpose Mendelian disease genomic research has undergone a massive transformation
over the past decade. With increasing availability of exome and genome sequencing, the …
over the past decade. With increasing availability of exome and genome sequencing, the …
Genetic overview of postaxial polydactyly: updated classification
Polydactyly or polydactylism, also known as a hyperdactyly, is a congenital limb defect with
various morphologic phenotypes. Apart from physical and functional impairments, the …
various morphologic phenotypes. Apart from physical and functional impairments, the …
[HTML][HTML] A review of polydactyly and its inheritance: Connecting the dots
DK Bubshait - Medicine, 2022 - journals.lww.com
Objective: This study collects what is known about the inheritance underpinnings of
syndromic and non-syndromic polydactylies and highlights dactyly presentations with …
syndromic and non-syndromic polydactylies and highlights dactyly presentations with …
Mutations in SCNM1 cause orofaciodigital syndrome due to minor intron splicing defects affecting primary cilia
A Iturrate, A Rivera-Barahona, CL Flores… - The American Journal of …, 2022 - cell.com
Orofaciodigital syndrome (OFD) is a genetically heterogeneous ciliopathy characterized by
anomalies of the oral cavity, face, and digits. We describe individuals with OFD from three …
anomalies of the oral cavity, face, and digits. We describe individuals with OFD from three …
Cep131-Cep162 and Cby-Fam92 complexes cooperatively maintain Cep290 at the basal body and contribute to ciliogenesis initiation
Z Wu, H Chen, Y Zhang, Y Wang, Q Wang… - Plos …, 2024 - journals.plos.org
Cilia play critical roles in cell signal transduction and organ development. Defects in cilia
function result in a variety of genetic disorders. Cep290 is an evolutionarily conserved …
function result in a variety of genetic disorders. Cep290 is an evolutionarily conserved …
[HTML][HTML] Biallelic variant in DACH1, encoding Dachshund Homolog 1, defines a novel candidate locus for recessive postaxial polydactyly type A
Polydactyly or hexadactyly is characterized by an extra digit/toe with or without a bone.
Currently, variants in ten genes have been implicated in the non-syndromic form of …
Currently, variants in ten genes have been implicated in the non-syndromic form of …
[HTML][HTML] Polydactyly: Clinical and molecular manifestations
Polydactyly is a malformation during the development of the human limb, which is
characterized by the presence of more than the normal number of fingers or toes. It is …
characterized by the presence of more than the normal number of fingers or toes. It is …
Variants in EFCAB7 underlie nonsyndromic postaxial polydactyly
Polydactyly is the most common limb malformation that occurs in 1.6–10.6 per one thousand
live births, with incidence varying with ancestry. The underlying gene has been identified for …
live births, with incidence varying with ancestry. The underlying gene has been identified for …
A novel homozygous sequence variant in GLI1 underlies first case of autosomal recessive pre‐axial polydactyly.
The article discusses a study human autopod anomaly polydactyly which is characterized by
duplication of digits/phalanges in hands and/or feet, and subdivided into three types …
duplication of digits/phalanges in hands and/or feet, and subdivided into three types …
Membrane remodeling by FAM92A1 during brain development regulates neuronal morphology, synaptic function, and cognition
L Wang, Z Yang, F Satoshi, X Prasanna, Z Yan… - Nature …, 2024 - nature.com
Abstract The Bin/Amphiphysin/Rvs (BAR) domain protein FAM92A1 is a multifunctional
protein engaged in regulating mitochondrial ultrastructure and ciliogenesis, but its …
protein engaged in regulating mitochondrial ultrastructure and ciliogenesis, but its …