Microarrays and polyglutamine disorders: reports from the Hereditary Disease Array Group

Impaired motor activity in a CRISPR SCA5 L253P knock-in mouse is associated with selective β-III-spectrin subcellular redistribution in the cerebellum.

bioRxiv : the preprint server for biology·2026

Neural basis for mutant ATAXIN-1 induced respiratory dysfunction in mouse models of spinocerebellar ataxia type 1.

Neurobiology of disease·2026

Repeat-associated non-AUG translation as a common mechanism for the polyGln ataxias.

Cell reports·2025

Striatal pathology in Spinocerebellar Ataxia Type 1 mice: A comparative study with Huntington's disease.

bioRxiv : the preprint server for biology·2025

An expanded polyglutamine in ATAXIN1 results in a loss-of-function that exacerbates severity of Multiple Sclerosis in an EAE mouse model.

Research square·2025

An expanded polyglutamine in ATAXIN1 results in a loss-of-function that exacerbates severity of Multiple Sclerosis in an EAE mouse model.

Journal of neuroinflammation·2025

A de novo TRPV4 variant c.2479C>G (p.Pro827Ala) in Spondylometaphyseal dysplasia Kozlowski type: identification and functional analysis.

Human molecular genetics·2026

SPEN deficiency contributes to the development of orofacial clefts in humans and mice.

Human molecular genetics·2026

Fetal myogenesis chromatin state and CpG from the open alliance markers and their intersection with adult muscle and gastrointestinal genetics.

Human molecular genetics·2026

The abnormal C-terminus caused by DVL1 variants impacts Robinow syndrome phenotypes.

Human molecular genetics·2026

A functional framework in patient fibroblasts informs ATP7A variant pathogenicity and identifies p.Q990P as a novel cause of distal motor neuropathy.

Human molecular genetics·2026

Integrated multi-platform genetic profiling reveals dual molecular pathology in 46, XY disorders of sex development through NR5A1 Haploinsufficiency and maternal chromosome 15 UPD.

Human molecular genetics·2026

The Genetics of Coronary Artery Disease: Insights from Genome-wide Association Studies.

Current cardiology reviews·2026

Establishment of the endocrine variant extractor and its clinical application in identifying a novel GATA3 mutation in HDR syndrome.

Frontiers in endocrinology·2026

Sex- and Population-Specific Formulas for Glenoid Height-Based Assessment of Glenoid Bone Loss: A Systematic Review and Meta-analysis.

Orthopaedic journal of sports medicine·2026

Root cause discovery via permutations and Cholesky decomposition.

Journal of the Royal Statistical Society. Series B, Statistical methodology·2026

In-silico analysis of Bifidobacterium bifidum strain 900791 genome in the context of the B. bifidum pangenome.

Frontiers in cellular and infection microbiology·2026

Sex Differences in Behavioral Responses to Chronic Unpredictable Mild Stress in Swiss Mice.

The European journal of neuroscience·2026

Related Experiment Videos

Microarrays and polyglutamine disorders: reports from the Hereditary Disease Array Group

Related Concept Videos

Impaired motor activity in a CRISPR SCA5 L253P knock-in mouse is associated with selective β-III-spectrin subcellular redistribution in the cerebellum.

Neural basis for mutant ATAXIN-1 induced respiratory dysfunction in mouse models of spinocerebellar ataxia type 1.

Repeat-associated non-AUG translation as a common mechanism for the polyGln ataxias.

Striatal pathology in Spinocerebellar Ataxia Type 1 mice: A comparative study with Huntington's disease.

An expanded polyglutamine in ATAXIN1 results in a loss-of-function that exacerbates severity of Multiple Sclerosis in an EAE mouse model.

An expanded polyglutamine in ATAXIN1 results in a loss-of-function that exacerbates severity of Multiple Sclerosis in an EAE mouse model.

A de novo TRPV4 variant c.2479C>G (p.Pro827Ala) in Spondylometaphyseal dysplasia Kozlowski type: identification and functional analysis.

SPEN deficiency contributes to the development of orofacial clefts in humans and mice.

Fetal myogenesis chromatin state and CpG from the open alliance markers and their intersection with adult muscle and gastrointestinal genetics.

The abnormal C-terminus caused by DVL1 variants impacts Robinow syndrome phenotypes.

A functional framework in patient fibroblasts informs ATP7A variant pathogenicity and identifies p.Q990P as a novel cause of distal motor neuropathy.

Integrated multi-platform genetic profiling reveals dual molecular pathology in 46, XY disorders of sex development through NR5A1 Haploinsufficiency and maternal chromosome 15 UPD.

The Genetics of Coronary Artery Disease: Insights from Genome-wide Association Studies.

Establishment of the endocrine variant extractor and its clinical application in identifying a novel <i>GATA3</i> mutation in HDR syndrome.

Sex- and Population-Specific Formulas for Glenoid Height-Based Assessment of Glenoid Bone Loss: A Systematic Review and Meta-analysis.

Root cause discovery via permutations and Cholesky decomposition.

<i>In-silico</i> analysis of <i>Bifidobacterium bifidum</i> strain 900791 genome in the context of the <i>B. bifidum</i> pangenome.

Sex Differences in Behavioral Responses to Chronic Unpredictable Mild Stress in Swiss Mice.

Related Experiment Videos

Microarrays and polyglutamine disorders: reports from the Hereditary Disease Array Group

Related Concept Videos

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