A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARX
about
Epigenetic regulation by histone demethylases in hypoxiaMethamphetamine-associated memory is regulated by a writer and an eraser of permissive histone methylation.Regulation of histone H3K4 methylation in brain development and disease.The overdue promise of short tandem repeat variation for heritability.Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity.Disrupted intricacy of histone H3K4 methylation in neurodevelopmental disorders.Early rescue of interneuron disease trajectory in developmental epilepsies.A Mouse Model of X-linked Intellectual Disability Associated with Impaired Removal of Histone MethylationUnraveling molecular pathways shared by Kabuki and Kabuki-like syndromes.The Diathesis-Epilepsy Model: How Past Events Impact the Development of Epilepsy and Comorbidities.Histone Lysine Methylation and Neurodevelopmental Disorders.Could a patient with SMC1A duplication be classified as a human cohesinopathy?Novel microduplications at Xp11.22 including HUWE1: clinical and molecular insights into these genomic rearrangements associated with intellectual disability.
P2860
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P2860
A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARX
description
2013 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի հունվարին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2013
@ast
im Januar 2013 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 2013/01/10)
@sk
vědecký článek publikovaný v roce 2013
@cs
wetenschappelijk artikel (gepubliceerd op 2013/01/10)
@nl
наукова стаття, опублікована в січні 2013
@uk
مقالة علمية (نشرت في 10-1-2013)
@ar
name
A regulatory path associated w ...... polyalanine expansions in ARX
@ast
A regulatory path associated w ...... polyalanine expansions in ARX
@en
A regulatory path associated w ...... polyalanine expansions in ARX
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type
label
A regulatory path associated w ...... polyalanine expansions in ARX
@ast
A regulatory path associated w ...... polyalanine expansions in ARX
@en
A regulatory path associated w ...... polyalanine expansions in ARX
@nl
prefLabel
A regulatory path associated w ...... polyalanine expansions in ARX
@ast
A regulatory path associated w ...... polyalanine expansions in ARX
@en
A regulatory path associated w ...... polyalanine expansions in ARX
@nl
P2093
P2860
P50
P1476
A regulatory path associated w ...... polyalanine expansions in ARX
@en
P2093
Denise Drongitis
Francesca Fusco
Genesia Manganelli
Loredana Poeta
Maria Brigida Lioi
Maria Giuseppina Miano
Mariateresa Paciolla
Matilde Valeria Ursini
Monica Courtney
P2860
P304
P356
10.1016/J.AJHG.2012.11.008
P407
P577
2013-01-10T00:00:00Z