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research Heterozygous deletion of the NSDHL gene in an Appenzeller Mountain Dog with verrucous epidermal keratinocytic nevi

1 citations , April 2024 in “Animal Genetics”

A genetic defect in an Appenzeller Mountain Dog caused skin issues, improved with ketoconazole, showing the importance of advanced genetic testing.

research Association between VEGF gene polymorphisms (11 sites) and polycystic ovary syndrome risk

5 citations , January 2020 in “Bioscience Reports”

Certain changes in the VEGF gene can increase or decrease the risk of polycystic ovary syndrome.

research Mdm2-p53 Signaling in Tissue Homeostasis and the DNA Damage Response: A Dissertation

January 2012

Mdm2 is crucial for controlling p53 to maintain healthy cells and prevent tumors.

Protein Kinase C Epsilon, Which Is Linked to Ultraviolet Radiation-Induced Development of Squamous Cell Carcinomas, Stimulates Rapid Turnover of Adult Hair Follicle Stem Cells

research Protein Kinase Cε, Which Is Linked to Ultraviolet Radiation-Induced Development of Squamous Cell Carcinomas, Stimulates Rapid Turnover of Adult Hair Follicle Stem Cells

10 citations , January 2013 in “Journal of skin cancer”

PKC ε increases hair follicle stem cell turnover and may raise skin cancer risk.

research Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia

74 citations , October 2012 in “The American Journal of Human Genetics”

Mutations in the HOXC13 gene cause hair and nail development issues.

Case Report: A Novel Splice-Site Mutation of MTX2 Gene Caused Mandibuloacral Dysplasia Progeroid Syndrome: The First Report from China and Literature Review

research Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review

March 2024 in “Frontiers in endocrinology”

A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.

Mutational Spectrum in 101 Patients with Hypohidrotic Ectodermal Dysplasia and Breakpoint Mapping in Independent Cases of Rare Genomic Rearrangements

research Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements

30 citations , June 2016 in “Journal of Human Genetics”

Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.

research Four Independent Mutations in the Feline Fibroblast Growth Factor 5 Gene Determine the Long-Haired Phenotype in Domestic Cats

75 citations , September 2007 in “Journal of Heredity”

FGF5 gene mutations cause long hair in domestic cats.

research Kin‐cohort analysis of LRRK2‐G2019S penetrance in Parkinson's disease

47 citations , June 2011 in “Movement Disorders”

The LRRK2-G2019S mutation in Parkinson's disease has a lifetime penetrance of 25-35%, and finasteride may help reduce symptoms in adult male Tourette syndrome patients.

research Fibrotic enzymes modulate wound‐induced skin tumorigenesis

15 citations , March 2021 in “EMBO Reports”

PRSS35 enzyme may help start skin tumors and could be a target for cancer treatment.

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