Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate. - Test2 - elhamkhani - TriplyDB

Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate.

Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate.

http://www.wikidata.org/entity/Q36770275

about

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.X chromosome regulation: diverse patterns in development, tissues and disease.Mammalian Y chromosomes retain widely expressed dosage-sensitive regulators Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients.Sex, epilepsy, and epigenetics.Deciphering the pathogenic consequences of chromosomal aberrations in human genetic disease.Kabuki syndrome: a Chinese case series and systematic review of the spectrum of mutations.Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development.The strong association of left-side heart anomalies with Kabuki syndrome Actin capping protein CAPZB regulates cell morphology, differentiation, and neural crest migration in craniofacial morphogenesis†The necessity for in vivo functional analysis in human medical genetics.X-chromosome inactivation and escape.Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2).Unraveling molecular pathways shared by Kabuki and Kabuki-like syndromes.Zebrafish models of orofacial clefts.Spermatogenic failure and the Y chromosome.Describing sequencing results of structural chromosome rearrangements with a suggested next-generation cytogenetic nomenclature.Ocular manifestations in the X-linked intellectual disability syndromes.Conserved microRNA targeting reveals preexisting gene dosage sensitivities that shaped amniote sex chromosome evolution.Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.De novo exonic deletion of KDM6A in a Chinese girl with Kabuki syndrome: A case report and brief literature review.Genetic Requirement of talin1 for Proliferation of Cranial Neural Crest Cells during Palate Development.Expanding the Oro-Dental and Mutational Spectra of Kabuki Syndrome and Expression of KMT2D and KDM6A in Human Tooth Germs.Neurobehavioral features in individuals with Kabuki syndrome.

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P2860

Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate.

http://www.wikidata.org/entity/Q36770275

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Carl Ernst

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Carol Clericuzio

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Colby Chiang

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Jill A Rosenfeld

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P2860

Rare chromosomal deletions and duplications increase risk of schizophrenia

Purification of the human NF-E2 complex: cDNA cloning of the hematopoietic cell-specific subunit and evidence for an associated partner

Knockdown of ALR (MLL2) reveals ALR target genes and leads to alterations in cell adhesion and growth.

Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

Genome-wide association study of bipolar disorder in European American and African American individuals

Fast and accurate short read alignment with Burrows-Wheeler transform

Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder

Identification of JmjC domain-containing UTX and JMJD3 as histone H3 lysine 27 demethylases

Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

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