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https://disorders.eyes.arizona.edu/references/yy1-haploinsufficiency-causes-intellectual-disability-syndrome-featuring-transcriptional YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and... intellectual disabilityhaploinsufficiencycausessyndromefeaturing https://oru.diva-portal.org/smash/record.jsf?pid=diva2:1830925 Growth failure in aggrecan haploinsufficiency is due to a decrease in growth plate matrix volume... https://pmc.ncbi.nlm.nih.gov/articles/PMC11259789/ Haploinsufficiency in PTPN2 leads to early-onset systemic autoimmunity from Evans syndrome to lupus... Exome sequencing in pediatric systemic lupus and Evans syndrome identified six novel monoallelic PTPN2 mutations, impairing its regulatory function. This... https://www.izn.uni-heidelberg.de/de/node/627?overlay=menu MYT1L haploinsufficiency in human neurons and mice causes autism-associated phenotypes that can be... https://pubmed.ncbi.nlm.nih.gov/17673255/ Cardiac-specific haploinsufficiency of beta-catenin attenuates cardiac hypertrophy but enhances... In addition to its role in cell adhesion, beta-catenin is an important signaling molecule in the Wnt/Wingless signaling pathway. Recent studies have indicated... cardiacspecifichaploinsufficiencybetahypertrophy https://blogs.bmj.com/jmg/2021/10/23/sufu-haploinsufficiency-causes-a-recognisable-neurodevelopmental-phenotype-at-the-mild-end-of-the-joubert-syndrome-spectrum/ SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the... Feb 23, 2026 - Joubert syndrome (JS) is a genetic neurodevelopmental condition diagnosed by characteristic brain imaging findings in patients with abnormal eye movements,... https://pubmed.ncbi.nlm.nih.gov/28942966/ Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay,... Bromodomain PHD finger transcription factor (BPTF) is the largest subunit of nucleosome remodeling factor (NURF), a member of the ISWI chromatin-remodeling... of the https://pubmed.ncbi.nlm.nih.gov/28671691/ Germline Chd8 haploinsufficiency alters brain development in mouse The chromatin remodeling gene CHD8 represents a central node in neurodevelopmental gene networks implicated in autism. We examined the impact of germline... brain developmentgermlinehaploinsufficiencyaltersmouse https://pubmed.ncbi.nlm.nih.gov/32193150/ TET2 haploinsufficiency alters reprogramming into induced pluripotent stem cells The discovery of the Ten-Eleven Translocation (TET) protein family was initiated by the identification of the MLL partner TET1, and of mutations in the TET2... haploinsufficiencyaltersreprogramminginducedpluripotent https://edrn.cancer.gov/data-and-resources/publications/17349581-1067-krasg12d-and-smad4dpc4-haploinsufficiency-cooperate-to-induce-mucinous-cystic-neoplasms-and-invasive-adenocarcinoma-of-the-pancreas/ Kras(G12D) and Smad4/Dpc4 haploinsufficiency cooperate to induce mucinous cystic neoplasms and... This is a publication by a member of the Early Detection Research Network. https://www.cirm.ca.gov/about-cirm/publications/haploinsufficiency-baz1b-contributes-williams-syndrome-through-transcriptional-dysregulation-neurodevelopmental-pathways/ Haploinsufficiency of BAZ1B contributes to Williams syndrome through transcriptional dysregulation... williams syndromehaploinsufficiencycontributesdysregulation https://rarediseases.info.nih.gov/diseases/17673/intellectual-disability-facial-dysmorphism-syndrome-due-to-setd5-haploinsufficiency Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | About the... Find symptoms and other information about Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency. intellectual disabilitydue tofacialsyndrome https://pubmed.ncbi.nlm.nih.gov/27399968/ Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual... Numerous genes are associated with neurodevelopmental disorders such as intellectual disability and autism spectrum disorder (ASD), but their dysfunction is... haploinsufficiencyinteracting https://www.izn.uni-heidelberg.de/de/node/627?overlay=search MYT1L haploinsufficiency in human neurons and mice causes autism-associated phenotypes that can be... https://profiles.wustl.edu/en/publications/cytotoxic-t-lymphocyte-associated-protein-4-haploinsufficiency-as/fingerprints/ Cytotoxic T-lymphocyte-associated protein 4 haploinsufficiency-associated inflammation can occur... cytotoxiclymphocyteassociatedproteinhaploinsufficiency https://researchdiscovery.drexel.edu/esploro/outputs/journalArticle/Large-conductance-calcium-activated-potassium-channel-haploinsufficiency-leads/991021860733804721 Large-conductance calcium-activated potassium channel haploinsufficiency leads to sensory deficits... May 5, 2022 - Background Mutations in the genes encoding the large-conductance calcium-activated potassium channel, especially KCNMA1 encoding its alpha-subunit, have been... potassium channellargeconductancecalciumactivated https://publikationen.uni-tuebingen.de/xmlui/handle/10900/125319 Haploinsufficiency of KMT2E Results in Transcriptional Changes and Leads to Non-syndromic... https://nrc-publications.canada.ca/eng/view/object/?id=dbd98829-3d74-4b32-bd93-83405613d6f2 Phenotypic variability associated with progranulin haploinsufficiency in patients with the common... Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C T (Arg493X) mutation: an international initiative associated within patientsvariabilityhaploinsufficiencycommon https://pure.psu.edu/en/publications/bif-1-haploinsufficiency-promotes-chromosomal-instability-and-acc/ Bif-1 haploinsufficiency promotes chromosomal instability and accelerates Myc-driven... bifhaploinsufficiencypromotesinstabilityaccelerates https://dl.tufts.edu/concern/pdfs/mg74qz58p PDF | Molecular and cellular basis for transformation associated with BRCA1-haploinsufficiency. |... molecular and cellularassociated withpdfbasis https://open.library.emory.edu/concern/publications/7a69823b-42f6-44d1-86fa-23c533949ac6 Trehalose upregulates progranulin expression in human and mouse models of GRN haploinsufficiency: A... Trehalose upregulates progranulin expression in human and mouse models of GRN haploinsufficiency: A novel therapeutic lead to treat frontotemporal dementia https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2025.1624715/full Frontiers | Case Report: Exploring the spectrum of A20 haploinsufficiency in children Haploinsufficiency of A20 (HA20), caused by TNFAIP3 mutations, is a rare autoinflammatory syndrome characterized by highly variable, multisystem manifestatio... case reportexploring thefrontiers https://pubmed.ncbi.nlm.nih.gov/33783914/ Haploinsufficiency of POU4F1 causes an ataxia syndrome with hypotonia and intention tremor De novo, heterozygous, loss-of-function variants were identified in Pou domain, class 4, transcription factor 1 (POU4F1) via whole-exome sequencing in four... https://pubmed.ncbi.nlm.nih.gov/31939740/ A sex difference in the response of the rodent postsynaptic density to synGAP haploinsufficiency SynGAP is a postsynaptic density (PSD) protein that binds to PDZ domains of the scaffold protein PSD-95. We previously reported that heterozygous deletion of...