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CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Chromodomain Helicase DNA-binding (CHD) proteins have been implicated in neurodevelopmental processes. Here, the authors identify missense variants in CHD3 that disturb its chromatin remodeling activities and cause a neurodevelopmental disorder with macrocephaly and speech and language impairment.

Lot Snijders Blok
Justine Rousseau
Philippe M. Campeau
ResearchOpen Access05 Nov 2018
Nature Communications

Volume: 9, P: 1-12
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Lot Snijders Blok
Justine Rousseau
Philippe M. Campeau
Amendments and CorrectionsOpen Access15 Feb 2019
Nature Communications

Volume: 10, P: 1-4
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Lot Snijders Blok
Justine Rousseau
Philippe M. Campeau
Amendments and CorrectionsOpen Access02 May 2019
Nature Communications

Volume: 10, P: 1-4
Whole-genome sequencing reveals host factors underlying critical COVID-19

Whole-genome sequencing, transcriptome-wide association and fine-mapping analyses in over 7,000 individuals with critical COVID-19 are used to identify 16 independent variants that are associated with severe illness in COVID-19.

Athanasios Kousathanas
Erola Pairo-Castineira
J. Kenneth Baillie
ResearchOpen Access07 Mar 2022
Nature

Volume: 607, P: 97-103
Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes

This analysis of a large, clinically annotated cohort of individuals with predisposition to myelodysplastic syndromes reveals insights into the genetic determinants of disease progression and their relationship with clinical manifestations and therapy outcome.

Sushree S. Sahoo
Victor B. Pastor
Marcin W. Wlodarski
Research07 Oct 2021
Nature Medicine

Volume: 27, P: 1806-1817
ERRα mediates metabolic adaptations driving lapatinib resistance in breast cancer

Despite initial benefits in treating HER2-positive breast cancer patients with lapatinib, resistance is prevalent. Here the authors show that lapatinib resistance can be ascribed to mTOR-mediated re-activation of ERRα and to the consequent induction of a metabolic adaptation.

Geneviève Deblois
Harvey W. Smith
Vincent Giguère
ResearchOpen Access12 Jul 2016
Nature Communications

Volume: 7, P: 1-14
Publisher Correction: Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes

Sushree S. Sahoo
Victor B. Pastor
Marcin W. Wlodarski
Amendments and Corrections19 Nov 2021
Nature Medicine

Volume: 27, P: 2248
Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder

Theresa Brunet
Kirsty McWalter
Matias Wagner
ResearchOpen Access11 Nov 2020
Genetics in Medicine

Volume: 23, P: 384-395
Deficient Muscle Carnitine Transport in Primary Carnitine Deficiency

Roser Pons
Rosalba Carrozzo
Darryl C De Vivo
Research01 Nov 1997
Pediatric Research

Volume: 42, P: 583-587
Crosstalk between the renin–angiotensin, complement and kallikrein–kinin systems in inflammation

The renin–angiotensin, complement and kallikrein–kinin systems comprise a multitude of mediators that modulate physiological responses during inflammatory and infectious diseases. This Review investigates the complex interactions between these systems and how these are dysregulated in various conditions, including cardiovascular diseases and COVID-19, as well as their therapeutic implications.

Zivile Bekassy
Ingrid Lopatko Fagerström
Diana Karpman
Reviews10 Nov 2021
Nature Reviews Immunology

Volume: 22, P: 411-428
Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia

Simone Schröder
Yun Li
Knut Brockmann
ResearchOpen Access07 Oct 2020
Genetics in Medicine

Volume: 23, P: 341-351
Genetics of intellectual disability in consanguineous families

Hao Hu
Kimia Kahrizi
Hossein Najmabadi
Research04 Jan 2018
Molecular Psychiatry

Volume: 24, P: 1027-1039
Bainbridge–Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition

Alma Kuechler
Johanna Christina Czeschik
Dagmar Wieczorek
Research30 Nov 2016
European Journal of Human Genetics

Volume: 25, P: 183-191

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CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Whole-genome sequencing reveals host factors underlying critical COVID-19

Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes

ERRα mediates metabolic adaptations driving lapatinib resistance in breast cancer

Publisher Correction: Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes

Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder

Deficient Muscle Carnitine Transport in Primary Carnitine Deficiency

Crosstalk between the renin–angiotensin, complement and kallikrein–kinin systems in inflammation

Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia

Genetics of intellectual disability in consanguineous families

Bainbridge–Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition

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