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KANSL1 gene
Known as:
KANSL1
, KIAA1267
, MSL1V1
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This gene is involved in histone acetylation.
National Institutes of Health
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Related topics
Related topics
3 relations
Histone Acetylation
KAT8 Regulatory NSL Complex Subunit 1
protein protein interaction
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2019
Highly Cited
2019
Genome-wide association study of post-traumatic stress disorder reexperiencing symptoms in >165,000 US veterans
J. Gelernter
,
Ning Sun
,
+25 authors
Department of Veterans Affairs Cooperative Studies Program an Program
Nature Neuroscience
2019
Corpus ID: 198981494
Post-traumatic stress disorder (PTSD) is a major problem among military veterans and civilians alike, yet its pathophysiology…
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2019
2019
Clinical utility of multigene panel testing in adults with epilepsy and intellectual disability
Felippe Borlot
,
Bruno Ivo de Almeida
,
Shari L Combe
,
D. Andrade
,
F. Filloux
,
K. Myers
Epilepsia
2019
Corpus ID: 195807534
To determine the diagnostic yield of a commercial epilepsy gene panel in adults with chronic epilepsy and accompanying…
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2018
2018
MicroRNA Expression Profile of Whole Blood Is Altered in Adenovirus-Infected Pneumonia Children
Feng Huang
,
Junsong Zhang
,
+5 authors
Gen Lu
Mediators of Inflammation
2018
Corpus ID: 53208610
Human adenovirus (Adv) infection is responsible for most community-acquired pneumonia in infants and children, which results in…
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Highly Cited
2015
Highly Cited
2015
The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant
D. Koolen
,
R. Pfundt
,
+46 authors
B. D. de Vries
European Journal of Human Genetics
2015
Corpus ID: 1643917
The Koolen-de Vries syndrome (KdVS; OMIM #610443), also known as the 17q21.31 microdeletion syndrome, is a clinically…
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2015
2015
Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype–phenotype correlations in a large cohort of patients
M. Zollino
,
G. Marangi
,
+27 authors
E. Zackai
Journal of Medical Genetics
2015
Corpus ID: 24514327
Background The 17q21.31 deletion syndrome phenotype can be caused by either chromosome deletions or point mutations in the KANSL1…
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2015
2015
Regulation of outer kinetochore Ndc80 complex-based microtubule attachments by the central kinetochore Mis12/MIND complex
Emily M. Kudalkar
,
Emily A. Scarborough
,
+7 authors
T. Davis
Proceedings of the National Academy of Sciences…
2015
Corpus ID: 18742983
Significance During cell division, multisubunit kinetochores partition chromosomes while maintaining a grip on dynamic…
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Highly Cited
2012
Highly Cited
2012
Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome
D. Koolen
,
Jamie M. Kramer
,
+22 authors
B. Vries
Nature Genetics
2012
Corpus ID: 20858530
We show that haploinsufficiency of KANSL1 is sufficient to cause the 17q21.31 microdeletion syndrome, a multisystem disorder…
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Highly Cited
2012
Highly Cited
2012
Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype
M. Zollino
,
Daniela Orteschi
,
+7 authors
G. Marangi
Nature Genetics
2012
Corpus ID: 205345510
The chromosome 17q21.31 deletion syndrome is a genomic disorder characterized by highly distinctive facial features, moderate-to…
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Highly Cited
2009
Highly Cited
2009
Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome
T. Tan
,
S. Aftimos
,
+15 authors
G. Peters
Journal of Medical Genetics
2009
Corpus ID: 42220574
Background: The recognition of the 17q21.31 microdeletion syndrome has been facilitated by high resolution microarray technology…
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Highly Cited
2008
Highly Cited
2008
Haplotypes and gene expression implicate the MAPT region for Parkinson disease
J. E. Tobin
,
J. E. Tobin
,
+43 authors
R. H. Myers
Neurology
2008
Corpus ID: 20878022
Background: Microtubule-associated protein tau (MAPT) has been associated with several neurodegenerative disorders including…
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