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research 420 Severe thiopurine-induced myelotoxicity and hair loss in Japanese patients with NUDT15 gene variant: A retrospective case-control study

April 2018 in “Journal of Investigative Dermatology”

Screening for the NUDT15 gene variant can prevent severe side effects from thiopurine drugs in East-Asian people.

research Identification of a Rare Variant in the SRD5A2 Gene in Siblings With 46,XY Disorders of Sexual Development

January 2025 in “Case Reports in Genetics”

A rare gene variant causes sexual development issues in siblings, needing personalized treatment.

research Hereditary 1,25‐Dihydroxyvitamin D–Resistant Rickets Due to an Opal Mutation Causing Premature Termination of the Vitamin D Receptor

47 citations , February 1998 in “Journal of bone and mineral research”

A specific gene mutation causes vitamin D-resistant rickets and hair loss.

research Expression of a truncated form of hHb1 hair keratin in human breast carcinomas

14 citations , December 1998 in “British Journal of Cancer”

Truncated hHb1 keratin may play a role in breast cancer cell transformation.

research Genomewide Scan for Linkage Reveals Evidence of Several Susceptibility Loci for Alopecia Areata

143 citations , January 2007 in “The American Journal of Human Genetics”

Certain genes on chromosomes 6, 10, 16, and 18 may increase the risk of alopecia areata.

research Mutation des menschlichen hairless -Gens bei Atrichia universalis

2 citations , September 1998 in “Der Hautarzt”

A gene mutation causes a rare hereditary hair loss, offering potential for new treatments.

research 882 Syndactyly type III and hypotrichosis in oculodentodigital syndrome with GJA1 mutation

April 2017 in “Journal of Investigative Dermatology”

A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.

research Marie Unna hereditary hypotrichosis: Identification of a U2HR mutation in the family from the original 1925 report

14 citations , April 2011 in “Journal of the American Academy of Dermatology”

Researchers found a gene mutation responsible for a rare hair loss condition.

research Phenotypic, transcriptomic, and genomic analyses reveal the spatiotemporal patterns and associated genes of coarse hair density in goats

3 citations , January 2025 in “动物学研究”

The gene GJA1 is important for regulating coarse hair density in goats.

research Clinical and genetic findings in a Chinese family with VDR-associated hereditary vitamin D-resistant rickets

7 citations , June 2016 in “Bone Research”

A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.

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