Nature Search

Bioinformatic prediction of key genes involved in pro-chondrogenic effect of fragmentated cartilage transplantation

Zhu Dai
Yong-Hui Jiang
Jiang-Hua Liu
ResearchOpen Access01 Jul 2025
Scientific Reports

Volume: 15, P: 1-14
TET1-mediated DNA hydroxymethylation regulates adult remyelination in mice

Myelin formation is regulated by epigenetic mechanisms and ensures proper neuronal function during development and after demyelination. Here, the authors show that TET1, a DNA hydroxymethylase, regulates myelin repair in adult mice, but is defective with aging.

Sarah Moyon
Rebecca Frawley
Patrizia Casaccia
ResearchOpen Access07 Jun 2021
Nature Communications

Volume: 12, P: 1-18
De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome

Toshinobu Matsuura
James S. Sutcliffe
Arthur L. Beaudet
Research01 Jan 1997
Nature Genetics

Volume: 15, P: 74-77
Endothelial SHANK3 regulates tight junctions in the neonatal mouse blood-brain barrier through β-Catenin signaling

This study reveals that SHANK3 deficiency in brain endothelial cells disrupts BBB function during the neonatal period through β-Catenin imbalance, leading to ASD-related neuronal and behavioral abnormalities.

Yong-Eun Kim
Minseong Kim
Il Hwan Kim
ResearchOpen Access06 Feb 2025
Nature Communications

Volume: 16, P: 1-17
Targeting the histone methyltransferase G9a activates imprinted genes and improves survival of a mouse model of Prader–Willi syndrome

A pharmacological screen has identified the histone methyltransferase G9a as a target to reactivate imprinted genes in a mouse model of Prader–Willi Syndrome that improves growth and survival.

Yuna Kim
Hyeong-Min Lee
Yong-hui Jiang
Research26 Dec 2016
Nature Medicine

Volume: 23, P: 213-222
Altered mGluR5-Homer scaffolds and corticostriatal connectivity in a Shank3 complete knockout model of autism

SHANK3 mutations have been linked to autism spectrum disorders, although the underlying mechanisms remain unclear. Here, the authors generate a complete knockout Shank3 mouse model, identifying ASD-like behaviours associated with impaired mGluR5-Homer scaffolding and abnormal brain connectivity.

Xiaoming Wang
Alexandra L. Bey
Yong-hui Jiang
ResearchOpen Access10 May 2016
Nature Communications

Volume: 7, P: 1-18
Proximity analysis of native proteomes reveals phenotypic modifiers in a mouse model of autism and related neurodevelopmental conditions

Protein interactions are essential for neural signaling and often perturbed in brain conditions. Here, the authors developed a CRISPR-based chemical-genetic approach to identify endogenous proximity proteomes that inform mechanism and phenotypic rescue strategies in mouse models of autism.

Yudong Gao
Daichi Shonai
Scott H. Soderling
ResearchOpen Access09 Aug 2024
Nature Communications

Volume: 15, P: 1-18
Rescue of neurological deficits in a mouse model for Angelman syndrome by reduction of αCaMKII inhibitory phosphorylation

Geeske M van Woerden
Karen D Harris
Edwin J Weeber
Research28 Jan 2007
Nature Neuroscience

Volume: 10, P: 280-282
Modeling SHANK3-associated autism spectrum disorder in Beagle dogs via CRISPR/Cas9 gene editing

Rui Tian
Yuan Li
Yong Q. Zhang
Research17 Oct 2023
Molecular Psychiatry

Volume: 28, P: 3739-3750
Vitamin C epigenetically controls osteogenesis and bone mineralization

For decades vitamin C’s primary function in bone has been attributed to its involvement in collagen synthesis. Here, the authors uncover that vitamin C’s central role in bone is to globally orchestrate osteogenesis via epigenetic mechanisms.

Roman Thaler
Farzaneh Khani
Andre J. van Wijnen
ResearchOpen Access06 Oct 2022
Nature Communications

Volume: 13, P: 1-18
Novel protein-truncating variants of a chromatin-modifying gene MSL2 in syndromic neurodevelopmental disorders

Xiaona Lu
Kim Ng
Yong-hui Jiang
ResearchOpen Access03 May 2024
European Journal of Human Genetics

Volume: 32, P: 879-883
Intranasal Delivery of Recombinant AAV Containing BDNF Fused with HA2TAT: a Potential Promising Therapy Strategy for Major Depressive Disorder

Xian-cang Ma
Peng Liu
Cheng-ge Gao
ResearchOpen Access03 Mar 2016
Scientific Reports

Volume: 6, P: 1-9
A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative

Vandana Shashi
Kelly Schoch
Allison Zheng
Research15 Jun 2018
Genetics in Medicine

Volume: 21, P: 161-172
Compound 38, a novel potent and selective antagonist of adenosine A_2A receptor, enhances arousal in mice

Hui Zhang
Wei-xiang Ma
Yi-qun Wang
Research08 Jan 2025
Acta Pharmacologica Sinica

Volume: 46, P: 1177-1189
Oxytocin improves maternal licking behavior deficits in autism-associated Shank3 mutant dogs

Wen Lyu
Yuan Li
Yong Q. Zhang
ResearchOpen Access06 Mar 2025
Translational Psychiatry

Volume: 15, P: 1-10
Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases

Loren D M Pena
Yong-Hui Jiang
Vandana Shashi
Research14 Sept 2017
Genetics in Medicine

Volume: 20, P: 464-469
Maternal valproic acid exposure leads to neurogenesis defects and autism-like behaviors in non-human primates

Hui Zhao
Qiqi Wang
Yong Q. Zhang
ResearchOpen Access21 Oct 2019
Translational Psychiatry

Volume: 9, P: 1-13
Genetic Variants Identified from Epilepsy of Unknown Etiology in Chinese Children by Targeted Exome Sequencing

Yimin Wang
Xiaonan Du
Yi Wang
ResearchOpen Access11 Jan 2017
Scientific Reports

Volume: 7, P: 1-11
CHD8 mutations increase gliogenesis to enlarge brain size in the nonhuman primate

Bang Li
Hui Zhao
Xiao-Jiang Li
ResearchOpen Access07 Mar 2023
Cell Discovery

Volume: 9, P: 1-23
Brain region-specific disruption of Shank3 in mice reveals a dissociation for cortical and striatal circuits in autism-related behaviors

Alexandra L. Bey
Xiaoming Wang
Yong-hui Jiang
ResearchOpen Access27 Apr 2018
Translational Psychiatry

Volume: 8, P: 1-17
Novel epigenetic molecular therapies for imprinting disorders

Sung Eun Wang
Yong-hui Jiang
ReviewsOpen Access25 Aug 2023
Molecular Psychiatry

Volume: 28, P: 3182-3193
The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders

Vandana Shashi
Allyn McConkie-Rosell
David B Goldstein
Research29 Aug 2013
Genetics in Medicine

Volume: 16, P: 176-182
Crystallography-guided discovery of carbazole-based retinoic acid-related orphan receptor gamma-t (RORγt) modulators: insights into different protein behaviors with “short” and “long” inverse agonists

Ming-cheng Yu
Feng Yang
Yong-hui Wang
Research25 Nov 2020
Acta Pharmacologica Sinica

Volume: 42, P: 1524-1534
Altered neurogenesis and disrupted expression of synaptic proteins in prefrontal cortex of SHANK3-deficient non-human primate

Hui Zhao
Zhuchi Tu
Yong Q Zhang
Correspondence25 Jul 2017
Cell Research

Volume: 27, P: 1293-1297
Correction: Corrigendum: Genetic Variants Identified from Epilepsy of Unknown Etiology in Chinese Children by Targeted Exome Sequencing

Yimin Wang
Xiaonan Du
Yi Wang
Amendments and CorrectionsOpen Access04 May 2017
Scientific Reports

Volume: 7, P: 1
Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts

A diagnostic tool based on blood RNA-seq is shown to identify causal genes and variants linked to clinical phenotypes in individuals with rare diseases for which whole-exome genetic sequencing was uninformative.

Laure Frésard
Craig Smail
Stephen B. Montgomery
Research03 Jun 2019
Nature Medicine

Volume: 25, P: 911-919
Inhibition of Trpv4 rescues circuit and social deficits unmasked by acute inflammatory response in a Shank3 mouse model of Autism

Stamatina Tzanoulinou
Stefano Musardo
Camilla Bellone
ResearchOpen Access12 Jan 2022
Molecular Psychiatry

Volume: 27, P: 2080-2094
Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses

Kelly Schoch
Queenie K.-G. Tan
Vandana Shashi
Research05 May 2020
Genetics in Medicine

Volume: 22, P: 1269-1275
Poppers use and Sexual Partner Concurrency Increase the HIV Incidence of MSM: a 24-month Prospective Cohort Survey in Shenyang, China

Zhen-xing Chu
Jun-jie Xu
Hong Shang
ResearchOpen Access08 Jan 2018
Scientific Reports

Volume: 8, P: 1-10
Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of counseling challenge

Qiong Xu
Jennifer Goldstein
Yong-hui Jiang
Research27 Apr 2016
Pediatric Research

Volume: 80, P: 371-381
Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios

Xiaolin Zhu
Slavé Petrovski
David B. Goldstein
ResearchOpen Access15 Jan 2015
Genetics in Medicine

Volume: 17, P: 774-781
A resource of lipidomics and metabolomics data from individuals with undiagnosed diseases

Jennifer E. Kyle
Kelly G. Stratton
Thomas O. Metz
ResearchOpen Access21 Apr 2021
Scientific Data

Volume: 8, P: 1-12
One is the loneliest number: genotypic matchmaking using the electronic health record

Elly Brokamp
Mary E. Koziura
Jimann Shin
Comments & Opinion06 Jul 2021
Genetics in Medicine

Volume: 23, P: 1830-1832

Search

Bioinformatic prediction of key genes involved in pro-chondrogenic effect of fragmentated cartilage transplantation

TET1-mediated DNA hydroxymethylation regulates adult remyelination in mice

De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome

Endothelial SHANK3 regulates tight junctions in the neonatal mouse blood-brain barrier through β-Catenin signaling

Targeting the histone methyltransferase G9a activates imprinted genes and improves survival of a mouse model of Prader–Willi syndrome

Altered mGluR5-Homer scaffolds and corticostriatal connectivity in a Shank3 complete knockout model of autism

Proximity analysis of native proteomes reveals phenotypic modifiers in a mouse model of autism and related neurodevelopmental conditions

Rescue of neurological deficits in a mouse model for Angelman syndrome by reduction of αCaMKII inhibitory phosphorylation

Modeling SHANK3-associated autism spectrum disorder in Beagle dogs via CRISPR/Cas9 gene editing

Vitamin C epigenetically controls osteogenesis and bone mineralization

Novel protein-truncating variants of a chromatin-modifying gene MSL2 in syndromic neurodevelopmental disorders

Intranasal Delivery of Recombinant AAV Containing BDNF Fused with HA2TAT: a Potential Promising Therapy Strategy for Major Depressive Disorder

A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative

Compound 38, a novel potent and selective antagonist of adenosine A_2A receptor, enhances arousal in mice

Oxytocin improves maternal licking behavior deficits in autism-associated Shank3 mutant dogs

Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases

Maternal valproic acid exposure leads to neurogenesis defects and autism-like behaviors in non-human primates

Genetic Variants Identified from Epilepsy of Unknown Etiology in Chinese Children by Targeted Exome Sequencing

CHD8 mutations increase gliogenesis to enlarge brain size in the nonhuman primate

Brain region-specific disruption of Shank3 in mice reveals a dissociation for cortical and striatal circuits in autism-related behaviors

Novel epigenetic molecular therapies for imprinting disorders

The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders

Crystallography-guided discovery of carbazole-based retinoic acid-related orphan receptor gamma-t (RORγt) modulators: insights into different protein behaviors with “short” and “long” inverse agonists

Altered neurogenesis and disrupted expression of synaptic proteins in prefrontal cortex of SHANK3-deficient non-human primate

Correction: Corrigendum: Genetic Variants Identified from Epilepsy of Unknown Etiology in Chinese Children by Targeted Exome Sequencing

Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts

Inhibition of Trpv4 rescues circuit and social deficits unmasked by acute inflammatory response in a Shank3 mouse model of Autism

Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses

Poppers use and Sexual Partner Concurrency Increase the HIV Incidence of MSM: a 24-month Prospective Cohort Survey in Shenyang, China

Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of counseling challenge

Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios

A resource of lipidomics and metabolomics data from individuals with undiagnosed diseases

One is the loneliest number: genotypic matchmaking using the electronic health record

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