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research Short anagen hair syndrome: association with mono- and biallelic variants in WNT10A and a genetic overlap with male pattern hair loss

September 2023 in “British Journal of Dermatology”

Some cases of short anagen hair syndrome are linked to specific genetic variations that are also connected to male pattern baldness.

research Studies on basal cell carcinoma with emphasis on the role of the human homologue of the Drosophila patched gene

November 1997 in “Open Archive (Karolinska Institutet)”

PTCH gene mutations contribute to basal cell carcinoma development.

Immune Deficiency-Related Enteropathy-Lymphocytopenia-Alopecia Syndrome Results from Tetratricopeptide Repeat Domain 7A Deficiency

research Immune deficiency–related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency

64 citations , August 2014 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology”

A deficiency in the TTC7A gene causes immune problems, gut issues, and hair loss.

research EDA Missense Variant in a Cat with X-Linked Hypohidrotic Ectodermal Dysplasia

June 2024 in “Genes”

A genetic mutation in the EDA gene causes hypohidrotic ectodermal dysplasia in cats.

research Planar cell polarity-dependent and independent functions in the emergence of tissue-scale hair follicle patterns

33 citations , June 2017 in “Developmental Biology”

Mice can correct hair follicle orientation without certain genes, but proper overall alignment needs those genes.

research A novel point mutation of keratin 17 (KRT17) in a Japanese family with pachyonychia congenita type 2: an RNA-based genetic analysis using a single hair bulb

5 citations , June 2008 in “British Journal of Dermatology”

research A syndrome of congenital ichthyosis, mental retardation, myopathy and anemia in dizygotic twin sisters

September 2012 in “Annals of saudi medicine/Annals of Saudi medicine”

The twins' condition is unique and doesn't match any known syndromes.

research 863 Molecular basis of hair follicle donor dominance in androgenetic alopecia and sexual dimorphism of the skin

April 2017 in “Journal of Investigative Dermatology”

Hair loss patterns differ between males and females due to 5 master regulators and JAK-STAT signaling affects hair growth.

research Monilethrix

6 citations , August 2012 in “The Journal of Pediatrics”

A 12-year-old girl was diagnosed with monilethrix, a genetic condition causing fragile, beaded hair that breaks easily, with no effective treatment available.

research Cell Polarization Defects in Early Heart Development

9 citations , July 2007 in “Circulation Research”

Defects in certain proteins cause major heart abnormalities during early development.

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