Results 21 to 30 of about 14,255 (146)
Mutations in OOEP and NLRP5 identified in infertile patients with early embryonic arrest
Human Mutation, Volume 43, Issue 12, Page 1909-1920, December 2022., 2022 Abstract The subcortical maternal complex (SCMC), composed of several maternal‐effect genes, is vital for the development of oocytes and early embryos. Variants of SCMC‐encoding genes (NLRP2, NLRP5, TLE6, PADI6, and KHDC3L, but not OOEP and ZBED3) are associated with human oocyte maturation dysfunction, fertilization failure, and early embryonic arrest.
Xiaomei Tong +6 more
wiley +1 more source
AutoCaSc: Prioritizing candidate genes for neurodevelopmental disorders
Human Mutation, Volume 43, Issue 12, Page 1795-1807, December 2022., 2022 Abstract Routine exome sequencing (ES) in individuals with neurodevelopmental disorders (NDD) remains inconclusive in >50% of the cases. Research analysis of unsolved cases can identify novel candidate genes but is time‐consuming, subjective, and hard to compare between labs.
Johann Kaspar Lieberwirth +5 more
wiley +1 more source
VariantAlert: A web‐based tool to notify updates in genetic variant annotations
Human Mutation, Volume 43, Issue 12, Page 1808-1815, December 2022., 2022 Abstract The reinterpretation of variants based on updated annotations is part of the routine work of research laboratories: the more data is collected about a specific variant, the higher the probability to reinterpret its classification. To support this task, we developed VariantAlert, a web‐based tool to help researchers and clinicians to be ...
Rossano Atzeni +3 more
wiley +1 more source
Using reported pathogenic variants to identify therapeutic opportunities for genetic diseases
Molecular Genetics &Genomic Medicine, Volume 11, Issue 1, January 2023., 2023 The increase in size of publicly available variant annotation and Mendelian disease databases have allowed for novel approaches to identify the likely direction of effect of genetic mutations. Specifically, we found a simple ratio of missense mutations is capable of identifying genes likely to cause disease through a gain‐of‐function mechanism ...
Andrew K. Ressler, David B. Goldstein
wiley +1 more source
Andrologia, Volume 54, Issue 11, December 2022., 2022 Abstract Varicocele (VC) is a common urogenital disease that leads to a high risk of testicular pain or male infertility. The purpose of this research was to explore the molecular mechanism of the Gui Zhi Fu Ling Wan (GFW) in the treatment of VC. The main active ingredients and targets information of GFW were screened by Traditional Chinese Medicine ...
Ruipeng Wang, Xiaoye Qiao, Xiaobin Wang
wiley +1 more source
Clinical Genetics, Volume 103, Issue 2, Page 156-166, February 2023., 2023 Abstract CNOT2 haploinsufficiency underlies a rare neurodevelopmental disorder named Intellectual Developmental disorder with NAsal speech, Dysmorphic Facies, and variable Skeletal anomalies (IDNADFS, OMIM 618608). The condition clinically overlaps with chromosome 12q15 deletion syndrome, suggesting a major contribution of CNOT2 haploinsufficiency to ...
Marcello Niceta +21 more
wiley +1 more source
Ultrasound Phenotype, Genetic Analysis, and Pregnancy Outcomes of Fetuses With 1p36 Deletion Syndrome. [PDF]
Mol Genet Genomic MedPhenotypic features of the 1p36 deletion syndrome in adults and children have been identified; however, due to the limitations of phenotypic identification in prenatal diagnosis, these features have not yet been described in prenatal cases. The 1p36 deletions are increasingly found by chance during prenatal testing using a single nucleotide ...
Cai M +6 more
europepmc +2 more sources
Frontiers in Cell and Developmental Biology, 2023 Purpose: Multi-omics offer worthwhile and increasingly accessible technologies to diagnostic laboratories seeking potential second-tier strategies to help patients with unresolved rare diseases, especially patients clinically diagnosed with a rare OMIM ...
E. Colin +38 more
semanticscholar +1 more source
SCN9A variant in a family of mixed breed dogs with congenital insensitivity to pain
Journal of Veterinary Internal Medicine, Volume 37, Issue 1, Page 230-235, January/February 2023., 2023 Abstract Background Congenital insensitivity to pain (CIP) and hereditary sensory and autonomic neuropathies (HSANs) are a rare group of genetic disorders causing inability to feel pain. Three different associated variants have been identified in dogs: 1 in Border Collies, 1 in mixed breed dogs, and 1 in Spaniels and Pointers.
Rodrigo Gutierrez‐Quintana +5 more
wiley +1 more source
Frontiers in Molecular Biosciences, 2021 Human genome resequencing projects provide an unprecedented amount of data about single-nucleotide variations occurring in protein-coding regions and often leading to observable changes in the covalent structure of gene products.
Castrense Savojardo +3 more
semanticscholar +1 more source