Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

Sex-linked Disorders

Sex-linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.

The Retinoblastoma Gene

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by

Same author

Transcriptome-guided modeling reveals insulin-related metabolic dysfunction in SCA3 mouse cerebellum.

Brain research·2026

Same author

De Novo MFN2 p.Arg95Met in Severe Charcot-Marie-Tooth Disease Type 2A.

Journal of the peripheral nervous system : JPNS·2026

Same author

Analytical and Workflow Performance of a High-Throughput Chemiluminescent Immunoassay System in a Clinical Laboratory.

Journal of clinical laboratory analysis·2026

Same author

Airway microbial dysbiosis and oxidative mitochondrial DNA damage in the development of bronchopulmonary dysplasia.

ERJ open research·2026

Same author

Association of leukocyte mitochondrial DNA copy number and inflammation with mortality among older adults.

Communications medicine·2026

Same author

Natural Defense against Atherosclerosis: The Therapeutic Potential of Torenia concolor Lindley var. Formosana Yamazaki Extract in Inhibiting the Formation of Macrophage-derived Foam Cells.

Journal of physiological investigation·2025

Same journal

Role and mechanism of quercetin via the TLR4/MyD88/IRAK4 signaling pathway in the treatment of allergic rhinitis.

Experimental and therapeutic medicine·2026

Same journal

Unveiling the comorbidity hub: WT1 drives renal cancer progression in chronic kidney disease and confers sirolimus vulnerability.

Experimental and therapeutic medicine·2026

Same journal

[Retracted] Crocin promotes apoptosis of human skin cancer cells by inhibiting the JAK/STAT pathway.

Experimental and therapeutic medicine·2026

Same journal

Ultrasonography and a novel combined prediction model for anticipating hypoxemia during painless gastroscopy.

Experimental and therapeutic medicine·2026

Same journal

<i>Ginkgo biloba</i> extract 50 dropping pills improve vascular cognitive impairment through anti-oxidative and anti-inflammatory effects.

Experimental and therapeutic medicine·2026

Same journal

Spontaneous cavernous sinus dural arteriovenous fistula with remote cerebellar hemorrhage: A case report.

Experimental and therapeutic medicine·2026

See all related articles

Search research articles

Related Experiment Video

Updated: May 8, 2026

A Simple Composite Phenotype Scoring System for Evaluating Mouse Models of Cerebellar Ataxia

A Simple Composite Phenotype Scoring System for Evaluating Mouse Models of Cerebellar Ataxia

Published on: May 21, 2010

Familial SCA14: A case report with review.

Han-Ke Huang¹, Chia-Ju Lee¹, Wen-Ling Cheng²

¹Department of Neurology, Changhua Christian Hospital, Changhua 50006, Taiwan, R.O.C.

Experimental and Therapeutic Medicine

|March 13, 2026

Summary

This summary is machine-generated.

Spinocerebellar ataxia type 14 (SCA14) in a Han Chinese family is linked to the PRKCG c.424T>G mutation. This genetic finding expands understanding of SCA14

Area of Science:

Neurogenetics
Molecular Neurology

Background:

Spinocerebellar ataxia type 14 (SCA14) is a rare, autosomal dominant neurodegenerative disorder.
Mutations in the PRKCG gene, encoding protein kinase Cγ (PKCγ), cause SCA14, leading to diverse clinical presentations from pure cerebellar ataxia to complex neurological involvement.

Keywords:

PRKCG mutation cerebellar atrophy genotype-phenotype correlation protein kinase C gamma spinocerebellar ataxia type 14

More Related Videos

Treating SCA1 Mice with Water-Soluble Compounds to Non-Specifically Boost Mitochondrial Function

Treating SCA1 Mice with Water-Soluble Compounds to Non-Specifically Boost Mitochondrial Function

Published on: January 22, 2017

Cerebellar Regional Dissection for Molecular Analysis

Cerebellar Regional Dissection for Molecular Analysis

Published on: December 5, 2020

Related Experiment Videos

Last Updated: May 8, 2026

A Simple Composite Phenotype Scoring System for Evaluating Mouse Models of Cerebellar Ataxia

A Simple Composite Phenotype Scoring System for Evaluating Mouse Models of Cerebellar Ataxia

Published on: May 21, 2010

Treating SCA1 Mice with Water-Soluble Compounds to Non-Specifically Boost Mitochondrial Function

Treating SCA1 Mice with Water-Soluble Compounds to Non-Specifically Boost Mitochondrial Function

Published on: January 22, 2017

Cerebellar Regional Dissection for Molecular Analysis

Cerebellar Regional Dissection for Molecular Analysis

Published on: December 5, 2020