[HTML][HTML] Updated understanding of the protein–DNA recognition code used by C2H2 zinc finger proteins

X Zhang, RM Blumenthal, X Cheng - Current Opinion in Structural Biology, 2024 - Elsevier
Abstract C2H2 zinc-finger (ZF) proteins form the largest family of DNA-binding transcription
factors coded by mammalian genomes. In a typical DNA-binding ZF module, there are …

Genetic architecture of childhood speech disorder: a review

AT Morgan, DJ Amor, MD St John, IE Scheffer… - Molecular …, 2024 - nature.com
Severe speech disorders lead to poor literacy, reduced academic attainment and negative
psychosocial outcomes. As early as the 1950s, the familial nature of speech disorders was …

Severe childhood speech disorder: Gene discovery highlights transcriptional dysregulation

MS Hildebrand, VE Jackson, TS Scerri, O Van Reyk… - Neurology, 2020 - neurology.org
Objective Determining the genetic basis of speech disorders provides insight into the
neurobiology of human communication. Despite intensive investigation over the past 2 …

[HTML][HTML] FOXP2-related speech and language disorder

A Morgan, SE Fisher, I Scheffer, M Hildebrand - 2017 - europepmc.org
FOXP2-related speech and language disorder (FOXP2-SLD) is caused by heterozygous
FOXP2 pathogenic variants (including whole-or partial-gene deletions). The core phenotype …

Germline biallelic mutation affecting the transcription factor Helios causes pleiotropic defects of immunity

T Shahin, HS Kuehn, MR Shoeb, L Gawriyski… - Science …, 2021 - science.org
Helios, a member of the Ikaros family of transcription factors, is predominantly expressed in
develo** thymocytes, activated T cells, and regulatory T cells (Tregs). Studies in mice …

Novel TUBA4A Variant Associated With Familial Frontotemporal Dementia

MO Mol, TH Wong, S Melhem, S Basu, R Viscusi… - Neurology …, 2021 - neurology.org
Objective Despite the strong genetic component of frontotemporal dementia (FTD), a
substantial proportion of patients remain genetically unresolved. We performed an in-depth …

Looking into the genetic bases of OCD dimensions: a pilot genome-wide association study

M Alemany-Navarro, R Cruz, E Real, C Segalàs… - Translational …, 2020 - nature.com
The multidimensional nature of obsessive-compulsive disorder (OCD) has been consistently
reported. Clinical and biological characteristics have been associated with OCD dimensions …

Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder

MB Christensen, AM Levy, NA Mohammadi… - Clinical …, 2022 - Wiley Online Library
Biallelic variants of the gene encoding for the zinc‐finger protein 142 (ZNF142) have
recently been associated with intellectual disability (ID), speech impairment, seizures, and …

ZNF142 mutation causes neurodevelopmental disorder with speech impairment and seizures: Novel variants and literature review

N Kamal, HJ Khamirani, S Mohammadi… - European Journal of …, 2022 - Elsevier
The ZNF142 gene on chromosome 2q35 contains ten exons and encodes a zinc finger
protein 142 with 31 C2H2-type zinc fingers domain. Pathogenic variants in ZNF142 result in …

ZNF142 mutation causes sex-dependent neurologic disorder

R Proskorovski-Ohayon, M Eskin-Schwartz… - Journal of Medical …, 2024 - jmg.bmj.com
Background Sex-specific predilection in neurological diseases caused by mutations in
autosomal genes is a phenomenon whose molecular basis is poorly understood. We …