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Adrenal 21-Hydroxylase Gene Mutations in Slovenian Hyperandrogenic Women: Evaluation of Corticotrophin Stimulation and HLA Polymorphisms in Screening for Carrier Status

research Adrenal 21-hydroxylase gene mutations in Slovenian hyperandrogenic women: evaluation of corticotrophin stimulation and HLA polymorphisms in screening for carrier status

19 citations , August 1999 in “European journal of endocrinology”

The study concluded that testing hormone levels after stimulation is not reliable for identifying carriers of 21-hydroxylase deficiency; genetic testing is necessary.

research Faculty Opinions recommendation of Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture.

May 2010 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature”

A mutation in the KRT74 gene causes woolly hair by affecting hair texture.

research Defects in mitochondrial DNA replication and oxidative damage in muscle of mtDNA mutator mice

53 citations , October 2014 in “Free radical biology & medicine”

Defective mitochondrial DNA replication causes aging symptoms and increased oxidative damage in mice.

research N6-methyladenosine (m6A)-circHECA from secondary hair follicle of cashmere goats: identification, regulatory network and expression regulated potentially by methylation of its host gene promoter

2 citations , August 2024 in “Animal Bioscience”

m6A-circHECA may affect cashmere goat hair growth and is possibly controlled by gene promoter methylation.

research A Novel Missense Mutation Affecting the Human Hairless Thyroid Receptor Interacting Domain 2 Causes Congenital Atrichia

26 citations , October 2002 in “Journal of Investigative Dermatology”

A specific gene mutation causes congenital hair loss.

research 410 NON-INVASIVE DIAGNOSIS OF PROSTATE CANCER FROM BODY FLUIDS USING A PANEL OF TUMOR SUPPRESSOR GENES

March 2011 in “European Urology Supplements”

Blood tests for tumor cells could improve prostate cancer diagnosis and treatment; hair loss severity linked to a gene affecting prostate conditions.

research Genetic alterations involved in the expression of the coloring of tortoiseshell and calcial hair in domestic cats males: review.

January 2019 in “PubVet”

Tracing Selection Signatures in the Pig Genome Provides Evidence for Selective Pressures on a Unique Curly Hair Phenotype in Mangalitza

research Tracing selection signatures in the pig genome gives evidence for selective pressures on a unique curly hair phenotype in Mangalitza

8 citations , December 2020 in “Scientific reports”

Selective breeding caused the unique curly hair in Mangalitza pigs.

research Expanding the Phenotypic Spectrum of Olmsted Syndrome

27 citations , June 2015 in “Journal of Investigative Dermatology”

TRPV3 gene mutations cause Olmsted syndrome symptoms, but severity varies.

Characterization of a Cluster of Human High/Ultrahigh Sulfur Keratin-Associated Protein Genes Embedded in the Type I Keratin Gene Domain on Chromosome 17q12-21

research Characterization of a Cluster of Human High/Ultrahigh Sulfur Keratin-associated Protein Genes Embedded in the Type I Keratin Gene Domain on Chromosome 17q12-21

98 citations , June 2001 in “Journal of biological chemistry/The Journal of biological chemistry”

A cluster of sulfur-rich hair protein genes was found on chromosome 17.

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