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research Case report: Novel p.Val306Met missense mutation in TRPV3 in a case of Olmsted syndrome accompanied by squamous cell carcinoma

October 2024 in “Frontiers in Oncology”

A new gene mutation linked to Olmsted syndrome may increase cancer risk, suggesting the need for ongoing patient monitoring.

research Discreet monilethrix: De novo mutation on the example of polish families

1 citations , January 2017 in “International Journal of Trichology”

A new mutation caused a rare hair disorder in a Polish girl, not inherited from her family.

research The “Bald Mill Hill” Mutation in the Mouse Is Associated with an Abnormal, Mislocalized HR bmh Protein

1 citations , July 2007 in “Journal of Investigative Dermatology”

The mutation causes hairless mice due to mislocalized and dysfunctional HR protein.

research A Missense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia in a Family of Irish Travellers

83 citations , October 1998 in “The American Journal of Human Genetics”

A specific gene mutation causes complete hair loss in an Irish Traveller family.

research Functional analyses of a novel missense and other mutations of the vitamin D receptor in association with alopecia

20 citations , July 2017 in “Scientific Reports”

A single amino acid change in the vitamin D receptor can disrupt its function and lead to hair loss.

research Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype

24 citations , May 2019 in “PLOS genetics”

Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.

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 A BIOCHEMICAL MARKER IN A DOMINANT MOUSE TRAIT

April 1974 in “Pediatric Research”

The Naked (N) trait in mice is linked to lower glycine and tyrosine in hair proteins.

research [Genetic counseling in a case of neuro-ectodermosis: Vera Price trichothiodystrophy. Brittle hair with reduced sulfur content].

3 citations , August 1988 in “PubMed”

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 Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene

13 citations , January 2018 in “Yonsei Medical Journal”

A specific gene mutation causes Olmsted syndrome.

research The lanceolate hair rat phenotype results from a missense mutation in a calcium coordinating site of the desmoglein 4 gene

50 citations , February 2004 in “Genomics”

A gene mutation causes lanceolate hair in rats by disrupting hair shaft integrity.

research Marie Unna hereditary hypotrichosis caused by a novel mutation in the human hairless transcript

14 citations , July 2010 in “Experimental Dermatology”

A new mutation in the HR gene causes hair loss in a specific family.

research Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation

6 citations , January 2022 in “BMC Medical Genomics”

Different gene mutations cause different types of ichthyosis, with some new mutations found.

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 A missense mutation in the type II hair keratin hHb3 is associated with monilethrix

79 citations , March 2005 in “Journal of Medical Genetics”

A mutation in the hHb3 gene is linked to the hair disorder monilethrix.

STIM1 R304W in Mice Causes Subgingival Hair Growth and Increased Trabecular Bone Fraction

research STIM1 R304W in mice causes subgingival hair growth and an increased fraction of trabecular bone

9 citations , November 2019 in “Cell calcium”

The STIM1 R304W mutation in mice leads to bone changes and teeth hair growth.

research Skipping of Exons by Premature Termination of Transcription and Alternative Splicing within Intron-5 of the Sheep SCF Gene: A Novel Splice Variant

6 citations , June 2012 in “PloS one”

A new mRNA variant of the SCF gene in sheep skin produces a shorter, different protein.

research Werewolf, There Wolf: Variants in Hairless Associated with Hypotrichia and Roaning in the Lykoi Cat Breed

27 citations , June 2020 in “Genes”

Lykoi cats' unique sparse hair is linked to specific genetic variants in the Hairless gene.

A Novel Nonsense Mutation in the STS Gene in a Pakistani Family with X-Linked Recessive Ichthyosis: Including a Very Rare Case of Two Homozygous Female Patients

research A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients

6 citations , January 2020 in “BMC Medical Genetics”

A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.

research 921 Generation of a new rodent model of scleroderma

April 2019 in “Journal of Investigative Dermatology”

Researchers created a new mouse model for studying scleroderma.

research Siberian cats help in solving part of the mystery surrounding golden cats

7 citations , May 2021 in “Animal Genetics”

The CORIN gene variant causes the golden color in Siberian cats.

research Disruption of P2RY5, an orphan G protein–coupled receptor, underlies autosomal recessive woolly hair

210 citations , February 2008 in “Nature genetics”

Mutations in the P2RY5 gene cause autosomal recessive woolly hair.

research A unique insertion/duplication in the VDR gene that truncates the VDR causing hereditary 1,25-dihydroxyvitamin D-resistant rickets without alopecia

37 citations , October 2006 in “Archives of Biochemistry and Biophysics”

A unique gene mutation causes vitamin D-resistant rickets without causing hair loss.

research Autosomal recessive woolly hair/hypotrichosis with homozygous mutation in the LIPH gene: a case report

May 2025 in “Dermatology Reports”

A genetic mutation in the LIPH gene causes a rare hair disorder with sparse, curly hair.

research The mouse hairy ears mutation exhibits an extended growth (anagen) phase in hair follicles and altered Hoxc gene expression in the ears

10 citations , November 2008 in “Veterinary Dermatology”

The mouse hairy ears mutation causes longer ear hair due to changes in gene expression.

research Characterization of Bsk mice: I. The Bsk mutation does not involve a recombination of cornea-specific keratin 12 and skin-specific hair keratin genes.

4 citations , May 1998 in “PubMed”

The Bsk mutation doesn't involve keratin gene recombination and its cause is unknown.

research Atrichia with papular lesions in two Pakistani consanguineous families resulting from mutations in the human hairless gene

20 citations , October 2005 in “Archives of Dermatological Research”

research Autosomal Recessive Woolly Hair Caused by LIPH Mutations: A Case Series of Six Chinese Patients

November 2025 in “Clinical Cosmetic and Investigational Dermatology”

LIPH mutations cause woolly hair in some Chinese people.

research Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome

14 citations , March 2018 in “The American journal of case reports”

People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.

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