Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency
Sign Up to like & getrecommendations! Published in 2022 at "Human Mutation"
DOI: 10.1002/humu.24332
Abstract: PAX5 is a transcription factor associated with abnormal posterior midbrain and cerebellum development in mice. PAX5 is highly loss‐of‐function intolerant and missense constrained, and has been identified as a candidate gene for autism spectrum disorder… read more here.
Keywords: neurodevelopmental syndrome; pax5 haploinsufficiency; delineation novel; syndrome associated ... See more keywords
A Nonsense N –Terminus NFKB2 Mutation Leading to Haploinsufficiency in a Patient with a Predominantly Antibody Deficiency
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Clinical Immunology"
DOI: 10.1007/s10875-020-00842-2
Abstract: The noncanonical NF-κB pathway is implicated in diverse biological and immunological processes. Monoallelic C-terminus loss-of-function and gain-of-function mutations of NFKB2 have been recently identified as a cause of immunodeficiency manifesting with common variable immunodeficiency (CVID)… read more here.
Keywords: immunodeficiency; nfkb2 mutation; haploinsufficiency; nonsense terminus ... See more keywords
Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder.
Sign Up to like & getrecommendations! Published in 2021 at "American journal of human genetics"
DOI: 10.1016/j.ajhg.2021.03.017
Abstract: Proteins involved in transcriptional regulation harbor a demonstrated enrichment of mutations in neurodevelopmental disorders. The Sin3 (Swi-independent 3)/histone deacetylase (HDAC) complex plays a central role in histone deacetylation and transcriptional repression. Among the two vertebrate… read more here.
Keywords: intellectual disability; autism; haploinsufficiency; sin3b ... See more keywords
A Class of Environmental and Endogenous Toxins Induces BRCA2 Haploinsufficiency and Genome Instability
Sign Up to like & getrecommendations! Published in 2017 at "Cell"
DOI: 10.1016/j.cell.2017.05.010
Abstract: Summary Mutations truncating a single copy of the tumor suppressor, BRCA2, cause cancer susceptibility. In cells bearing such heterozygous mutations, we find that a cellular metabolite and ubiquitous environmental toxin, formaldehyde, stalls and destabilizes DNA… read more here.
Keywords: brca2 haploinsufficiency; haploinsufficiency; environmental endogenous; class environmental ... See more keywords
Abatacept for treatment-refractory pediatric CTLA4-haploinsufficiency.
Sign Up to like & getrecommendations! Published in 2021 at "Clinical immunology"
DOI: 10.1016/j.clim.2021.108779
Abstract: CTLA4-haploinsufficiency is a complex disease of immune dysregulation presenting with a broad spectrum of clinical manifestations. CTLA4-Fc fusion proteins such as abatacept have been described to alleviate immune dysregulation in several adult cases of CTLA4-haploinsufficiency.… read more here.
Keywords: abatacept treatment; ctla4 haploinsufficiency; treatment refractory; haploinsufficiency ... See more keywords
Setd5 haploinsufficiency alters neuronal network connectivity and leads to autistic-like behaviors in mice
Sign Up to like & getrecommendations! Published in 2019 at "Translational Psychiatry"
DOI: 10.1038/s41398-018-0344-y
Abstract: SETD5, a gene linked to intellectual disability (ID) and autism spectrum disorder (ASD), is a member of the SET-domain family and encodes a putative histone methyltransferase (HMT). To date, the mechanism by which SETD5 haploinsufficiency… read more here.
Keywords: network; mice setd5; haploinsufficiency; like behaviors ... See more keywords
Variants in the 5′UTR reduce SHOX expression and contribute to SHOX haploinsufficiency
Sign Up to like & getrecommendations! Published in 2020 at "European Journal of Human Genetics"
DOI: 10.1038/s41431-020-0676-y
Abstract: SHOX haploinsufficiency causes 70–90% of Léri-Weill dyschondrosteosis (LWD) and 2–10% of idiopathic short stature (ISS). Deletions removing the entire gene or enhancers and point mutations in the coding region represent a well-established cause of haploinsufficiency.… read more here.
Keywords: haploinsufficiency variants; shox haploinsufficiency; haploinsufficiency; shox expression ... See more keywords
NitroSynapsin therapy for a mouse MEF2C haploinsufficiency model of human autism
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DOI: 10.1038/s41467-017-01563-8
Abstract: Transcription factor MEF2C regulates multiple genes linked to autism spectrum disorder (ASD), and human MEF2C haploinsufficiency results in ASD, intellectual disability, and epilepsy. However, molecular mechanisms underlying MEF2C haploinsufficiency syndrome remain poorly understood. Here we… read more here.
Keywords: nitrosynapsin therapy; autism; haploinsufficiency; therapy mouse ... See more keywords
Arid1b haploinsufficiency in parvalbumin- or somatostatin-expressing interneurons leads to distinct ASD-like and ID-like behavior
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DOI: 10.1038/s41598-020-64066-5
Abstract: Inhibitory interneurons are essential for proper brain development and function. Dysfunction of interneurons is implicated in several neurodevelopmental disorders, including autism spectrum disorder (ASD) and intellectual disability (ID). We have previously shown that Arid1b haploinsufficiency… read more here.
Keywords: asd like; parvalbumin somatostatin; arid1b haploinsufficiency; haploinsufficiency ... See more keywords
Notch1 haploinsufficiency in mice accelerates adipogenesis
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DOI: 10.1038/s41598-021-96017-z
Abstract: Notch signaling has been recognized recently as a key regulator of metabolism. Here, we determined the role of Notch1 in adipogenesis in wild-type (WT) and Notch1 hetero-mutant (N1+/−) mice provided with 12-week normal or high-fat… read more here.
Keywords: accumulation; haploinsufficiency; adipogenesis; notch1 haploinsufficiency ... See more keywords
HIPred: an integrative approach to predicting haploinsufficient genes
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DOI: 10.1093/bioinformatics/btx028
Abstract: Motivation: A major cause of autosomal dominant disease is haploinsufficiency, whereby a single copy of a gene is not sufficient to maintain the normal function of the gene. A large proportion of existing methods for… read more here.
Keywords: haploinsufficiency; approach predicting; hipred integrative; integrative approach ... See more keywords