Ten‐year follow‐up of Nicolaides–Baraitser syndrome with a de novo mutation and analysis of 58 gene loci of SMARCA2‐associated NCBRS
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DOI: 10.1002/mgg3.2009
Abstract: As a clinical subtype of SWI/SNF‐related intellectual disability syndromes, Nicolaides–Baraitser syndrome (NCBRS, OMIM601358) has a unique genotype–phenotype. Due to the scarcity of the number of cases reported and the limitations of diagnosis methods, so far… read more here.
Keywords: baraitser syndrome; genotype phenotype; gene; nicolaides baraitser ... See more keywords
A de novo mutation in the X-linked PAK3 gene is the underlying cause of intellectual disability and macrocephaly in monozygotic twins.
Sign Up to like & getrecommendations! Published in 2017 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2017.01.004
Abstract: Pathogenic variants in theP21 protein (Cdc42/Rac)-activated kinase 3gene (PAK3) lead to a rare non syndromic X-linked intellectual disability. The protein encoded by this gene forms an activated complex with GTP-bound RAS-like (P21), CDC2 and RAC1… read more here.
Keywords: novo mutation; intellectual disability; gene; pak3 gene ... See more keywords
De Novo Mutation Rate Variation and Its Determinants in Chlamydomonas
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DOI: 10.1093/molbev/msab140
Abstract: Abstract De novo mutations are central for evolution, since they provide the raw material for natural selection by regenerating genetic variation. However, studying de novo mutations is challenging and is generally restricted to model species,… read more here.
Keywords: rate variation; novo mutation; mutation rate; rate ... See more keywords
De novo mutation of the TSC2 gene in patient with Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders (TAND) Phenotype: a case report
Sign Up to like & getrecommendations! Published in 2023 at "Annals of Medicine and Surgery"
DOI: 10.1097/ms9.0000000000000489
Abstract: Introduction: Tuberous sclerosis complex (TSC) is a neurocutaneous disease caused by a mutation in the TSC1 or TSC2 gene. There are several neuropsychiatric manifestations associated with TSC known as TSC-associated neuropsychiatric disorder (TAND). This article… read more here.
Keywords: novo mutation; tsc2 gene; mutation; tuberous sclerosis ... See more keywords
De novo mutation rates at the single-mutation resolution in a human HBB gene region associated with adaptation and genetic disease
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DOI: 10.1101/gr.276103.121
Abstract: Although it is known that the mutation rate varies across the genome, previous estimates were based on averaging across various numbers of positions. Here, we describe a method to measure the origination rates of target… read more here.
Keywords: region; novo mutation; mutation; hbb gene ... See more keywords
Identification of a New de Novo Mutation Underlying Regressive Episodic Ataxia Type I
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DOI: 10.3389/fneur.2018.00587
Abstract: Episodic ataxia type 1 (EA1), a Shaker-like K+ channelopathy, is a consequence of genetic anomalies in the KCNA1 gene that lead to dysfunctions in the voltage-gated K+ channel Kv1. 1. Generally, KCNA1 mutations are inherited… read more here.
Keywords: ataxia type; novo mutation; episodic ataxia; new novo ... See more keywords
De Novo Mutation in Non-Tyrosine Kinase Domain of ROS1 as a Potential Predictor of Immune Checkpoint Inhibitors in Melanoma
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DOI: 10.3389/fonc.2021.666145
Abstract: Purpose Despite the success of targeted therapy in c-ros oncogene 1 (ROS1)-rearranged cancers, especially non-small cell lung cancer (NSCLC), the clinical significance of ROS1 de novo mutation has not yet been understood. We sought to… read more here.
Keywords: melanoma; novo mutation; ros1 mutation; ros1 ... See more keywords
Case Report: A Novel de novo Mutation in DNM1L Presenting With Developmental Delay, Ataxia, and Peripheral Neuropathy
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DOI: 10.3389/fped.2021.604105
Abstract: DNM1L encodes dynamin-related protein 1 (Drp1), which is a member of the dynamin superfamily of GTPases and mediates mitochondrial and peroxisomal fission. In humans, several de novo heterozygous missense mutations in DNM1L have been reported,… read more here.
Keywords: developmental delay; novo mutation; peripheral neuropathy; dnm1l ... See more keywords
A de novo mutation of SALL4 in a Chinese family with Okihiro syndrome
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DOI: 10.3892/mmr.2022.12647
Abstract: Okihiro syndrome is an autosomal dominant condition characterized by Duane anomaly and radial ray defects. The present study aimed to analyze the clinical manifestations of a patient with Okihiro syndrome and perform genetic testing on… read more here.
Keywords: okihiro syndrome; family; mutation sall4; sall4 chinese ... See more keywords