Cargando…

A Novel Kleefstra Syndrome-associated Variant That Affects the Conserved TPLX Motif within the Ankyrin Repeat of EHMT1 Leads to Abnormal Protein Folding

Kleefstra syndrome (KS) (Mendelian Inheritance in Man (MIM) no. 610253), also known as 9q34 deletion syndrome, is an autosomal dominant disorder caused by haploinsufficiency of euchromatic histone methyltransferase-1 (EHMT1). The clinical phenotype of KS includes moderate to severe intellectual disa...

Descripción completa

Detalles Bibliográficos
Autores principales:	Blackburn, Patrick R., Tischer, Alexander, Zimmermann, Michael T., Kemppainen, Jennifer L., Sastry, Sujatha, Knight Johnson, Amy E., Cousin, Margot A., Boczek, Nicole J., Oliver, Gavin, Misra, Vinod K., Gavrilova, Ralitza H., Lomberk, Gwen, Auton, Matthew, Urrutia, Raul, Klee, Eric W.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	American Society for Biochemistry and Molecular Biology 2017
Materias:	Molecular Bases of Disease
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5339767/ https://www.ncbi.nlm.nih.gov/pubmed/28057753 http://dx.doi.org/10.1074/jbc.M116.770545

Ejemplares similares

A novel de novo frameshift deletion in EHMT1 in a patient with Kleefstra Syndrome results in decreased H3K9 dimethylation
por: Blackburn, Patrick R., et al.
Publicado: (2017)

A multi-layered computational structural genomics approach enhances domain-specific interpretation of Kleefstra syndrome variants in EHMT1
por: Chi, Young-In, et al.
Publicado: (2023)

Intragenic duplication of EHMT1 gene results in Kleefstra syndrome
por: Schwaibold, Eva Maria Christina, et al.
Publicado: (2014)

Reversible white matter lesions associated with mutant EHMT1 and Kleefstra syndrome
por: He, Xu, et al.
Publicado: (2016)

Hypogonadotropic Hypogonadism and Kleefstra Syndrome due to a Pathogenic Variant in the EHMT1 Gene: An Underrecognized Association
por: Torga, Ana Patricia, et al.
Publicado: (2018)

Tourette-like syndrome secondary to Kleefstra syndrome 1 with a de novo microdeletion in the EHMT1 gene
por: Niu, Mengyue, et al.
Publicado: (2023)

Functional validation reveals the novel missense V419L variant in TGFBR2 associated with Loeys–Dietz syndrome (LDS) impairs canonical TGF-β signaling
por: Cousin, Margot A., et al.
Publicado: (2017)

Expansion of PURA-Related Phenotypes and Discovery of a Novel PURA Variant: A Case Report
por: Boczek, Nicole J., et al.
Publicado: (2020)

Co-occurrence of a maternally inherited DNMT3A duplication and a paternally inherited pathogenic variant in EZH2 in a child with growth retardation and severe short stature: atypical Weaver syndrome or evidence of a DNMT3A dosage effect?
por: Polonis, Katarzyna, et al.
Publicado: (2018)

A de novo splice site mutation in EHMT1 resulting in Kleefstra syndrome with pharmacogenomics screening and behavior therapy for regressive behaviors
por: Mitra, Amit Kumar, et al.
Publicado: (2016)

CRISPR single base editing, neuronal disease modelling and functional genomics for genetic variant analysis: pipeline validation using Kleefstra syndrome EHMT1 haploinsufficiency
por: Fear, Vanessa S., et al.
Publicado: (2022)

Novel Pathogenic Variant in TGFBR2 Confirmed by Molecular Modeling Is a Rare Cause of Loeys-Dietz Syndrome
por: Zimmermann, Michael T., et al.
Publicado: (2017)

The prevalence of diseases caused by lysosome-related genes in a cohort of undiagnosed patients
por: Vairo, Filippo Pinto, et al.
Publicado: (2017)

Three rare disease diagnoses in one patient through exome sequencing
por: Ferrer, Alejandro, et al.
Publicado: (2019)

Distinct functions of EHMT1 and EHMT2 in cancer chemotherapy and immunotherapy
por: Kang, Zhihua, et al.
Publicado: (2023)

P(2)T(2): Protein Panoramic annoTation Tool for the interpretation of protein coding genetic variants
por: DeVoe, Elias, et al.
Publicado: (2021)

Modeling post‐translational modifications and cancer‐associated mutations that impact the heterochromatin protein 1α‐importin α heterodimers
por: Zimmermann, Michael T., et al.
Publicado: (2019)

Analogues of the natural product Sinefungin as potent inhibitors of EHMT1 and EHMT2
por: Devkota, Kanchan, et al.
Publicado: (2013)

Psychiatric manifestations of Kleefstra syndrome: a case report
por: Yoshida, Kazunari, et al.
Publicado: (2023)

Multiple Coronary Artery Microfistulas in a Girl with Kleefstra Syndrome
por: Vargiami, Euthymia, et al.
Publicado: (2016)

Multiple copy number variation in a patient with Kleefstra syndrome
por: Lee, Thomas Nohama, et al.
Publicado: (2023)

Defensive and offensive behaviours in a Kleefstra syndrome mouse model
por: Alonso, Alejandra, et al.
Publicado: (2023)

Functional characterization of a GFAP variant of uncertain significance in an Alexander disease case within the setting of an individualized medicine clinic
por: Boczek, Nicole J., et al.
Publicado: (2016)

Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome
por: Almeqdadi, Mohammad, et al.
Publicado: (2018)

The Heterochromatin Protein 1 family
por: Lomberk, Gwen, et al.
Publicado: (2006)

Molecular modeling and molecular dynamic simulation of the effects of variants in the TGFBR2 kinase domain as a paradigm for interpretation of variants obtained by next generation sequencing
por: Zimmermann, Michael T., et al.
Publicado: (2017)

Kleefstra syndrome in Hungarian patients: additional symptoms besides the classic phenotype
por: Hadzsiev, Kinga, et al.
Publicado: (2016)

Disruption of a Novel Krüppel-like Transcription Factor p300-regulated Pathway for Insulin Biosynthesis Revealed by Studies of the c.-331 INS Mutation Found in Neonatal Diabetes Mellitus
por: Bonnefond, Amélie, et al.
Publicado: (2011)

The promise of epigenomic therapeutics in pancreatic cancer
por: Lomberk, Gwen A, et al.
Publicado: (2016)

Assessing Human Genetic Variations in Glucose Transporter SLC2A10 and Their Role in Altering Structural and Functional Properties
por: Zimmermann, Michael T., et al.
Publicado: (2018)

Case Report: Long-Term Treatment and Follow-Up of Kleefstra Syndrome-2
por: Wu, Dandan, et al.
Publicado: (2022)

GFAP canonical transcript may not be suitable for the diagnosis of adult-onset Alexander disease
por: Pinto e Vairo, Filippo, et al.
Publicado: (2018)

Pharmacogenomic findings from clinical whole exome sequencing of diagnostic odyssey patients
por: Cousin, Margot A., et al.
Publicado: (2017)

Emerging epigenomic landscapes of pancreatic cancer in the era of precision medicine
por: Lomberk, Gwen, et al.
Publicado: (2019)

TNFα Effects on Adipocytes Are Influenced by the Presence of Lysine Methyltransferases, G9a (EHMT2) and GLP (EHMT1)
por: Able, Ashley A., et al.
Publicado: (2023)

Clinicoradiographic and genetic features of cerebral small vessel disease indicate variability in mode of inheritance for monoallelic HTRA1 variants
por: Muthusamy, Karthik, et al.
Publicado: (2021)

Neuronal network dysfunction in a model for Kleefstra syndrome mediated by enhanced NMDAR signaling
por: Frega, Monica, et al.
Publicado: (2019)

Kleefstra Syndrome—Dental Manifestations and Needs: A Case Report with a Literature Review
por: Karlak, Victoria, et al.
Publicado: (2023)

De novo methylation of histone H3K23 by the methyltransferases EHMT1/GLP and EHMT2/G9a
por: Vinson, David A., et al.
Publicado: (2022)

MDC1 methylation mediated by lysine methyltransferases EHMT1 and EHMT2 regulates active ATM accumulation flanking DNA damage sites
por: Watanabe, Sugiko, et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_oour6hptbif2da68i4e8q9017i