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Characterization and Chromosomal Localization of Human Hair-Specific Keratin Genes and Comparative Expression During the Hair Growth Cycle

research Characterization and Chromosomal Localization of Human Hair-Specific Keratin Genes and Comparative Expression During the Hair Growth Cycle

32 citations , February 1998 in “The journal of investigative dermatology/Journal of investigative dermatology”

Two specific hair keratin genes are active during hair growth and decline as hair transitions to rest.

research Identification of two novel clusters of ultrahigh-sulfur keratin-associated protein genes on human chromosome 11*1

1 citations , May 2004 in “Biochemical and Biophysical Research Communications”

Two new gene clusters important for hair formation were found on human chromosome 11.

research Overexpression of Hoxc13 in differentiating keratinocytes results in downregulation of a novel hair keratin gene cluster and alopecia

114 citations , May 2001 in “Development”

Overexpression of Hoxc13 in hair cells causes hair loss and skin issues.

research Keratin 15 promotes a progenitor cell state in basal keratinocytes of skin epidermis

February 2025 in “bioRxiv (Cold Spring Harbor Laboratory)”

Keratin 15 helps keep skin cells in a young, undifferentiated state.

research Concerted gene duplications in the two keratin gene families

53 citations , May 1988 in “Journal of Molecular Evolution”

research Isolation and Characterization of a Putative Keratin-Associated Protein Gene Expressed in Embryonic Skin of Mice

22 citations , July 1998 in “Journal of Investigative Dermatology”

The 4C32 gene may help in mouse skin development and differentiation.

research Detection of Type IIHair Keratin Gene in a Family with Monilethrix

January 2010 in “Chinese Journal of Dermatovenereology of Integrated Traditional and Western Medicine”

A unique gene mutation was found in a family with monilethrix.

research 547 CDK9 Kinase Activation in Association with AFF1-SEC Initiate Epidermal Progenitor differentiation

November 2022 in “Journal of Investigative Dermatology”

NCSTN gene mutation causes abnormal skin cell differentiation and more inflammation, contributing to Hidradenitis Suppurativa.

research The Region Coding for the Helix Termination Motif and the Adjacent Intron 6 of the Human Type I Hair Keratin Gene hHa2 Contains Three Natural, Closely Spaced Polymorphic Sites

6 citations , March 1996 in “Journal of Investigative Dermatology”

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 Analysis of the function of ADAM17 in iRhom2 curly-bare and tylosis with esophageal cancer mutant mice

2 citations , June 2023 in “Journal of cell science”

Mutations in iRhom2 affect hair and skin in mice and are linked to esophageal cancer, with ADAM17 playing a crucial role.

research A novel monilethrix mutation in coil 2A of KRT86 causing autosomal dominant monilethrix with incomplete penetrance

15 citations , June 2012 in “British Journal of Dermatology”

A new mutation in the KRT86 gene causes a hair disorder with variable expression.

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 The inconsistent regulation of HOXC13 on different keratins and the regulation mechanism on HOXC13 in cashmere goat (Capra hircus)

17 citations , August 2018 in “BMC Genomics”

The HOXC13 gene affects different hair proteins in cashmere goats in varied ways and is controlled by a feedback loop and other factors.

research A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair

29 citations , July 2015 in “Journal of Medical Genetics”

A genetic variant in the KRT25 gene causes tightly curled hair.

research Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families

40 citations , December 2010 in “Human Genetics”

research Type XVII collagen coordinates proliferation in the interfollicular epidermis

124 citations , July 2017 in “eLife”

Type XVII collagen helps control skin cell growth and could be a target for anti-aging treatments.

research 301 Whole exome sequencing in AA patients identifies a hotspot mutation in the type II hair keratin gene, KRT82

June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology”

A mutation in the KRT82 gene is significantly associated with Alopecia Areata.

research Characterization of a Hair (Wool) Keratin Intermediate Filament Gene Domain

40 citations , February 1994 in “Journal of Investigative Dermatology”

research Complete sequence of a hair-like intermediate filament type II keratin gene

15 citations , January 1993 in “DNA sequence”

KRT2.13 gene is similar to KRT2.9 but not expressed in hair follicles.

research Association between IL16 gene polymorphisms and susceptibility to alopecia areata in the Korean population

11 citations , December 2013 in “International Journal of Dermatology”

IL16 gene variations may affect the risk of alopecia areata in Koreans.

research 494 Congenital generalized hypertrichosis with a copy number variation on chromosome 17q24

April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology”

A girl with excessive hair growth had a genetic change on chromosome 17 that reduced the activity of two genes linked to hair growth.

research A Homozygous Missense Variant in K25 Underlying Overlapping Phenotype with Woolly Hair and Dental Anomalies

2 citations , August 2022 in “The journal of investigative dermatology/Journal of investigative dermatology”

A specific mutation in the K25 gene causes a rare genetic disorder with curly hair at birth and later hair loss, along with dental issues.

research Re-Assessing K15 as an Epidermal Stem Cell Marker

36 citations , March 2011 in “Stem Cell Reviews and Reports”

research ADAM17 variant causes hair loss via ubiquitin ligase TRIM47 mediated degradation

May 2024 in “JCI insight”

A variant in the ADAM17 gene causes hair loss by increasing protein degradation through TRIM47.

research Characterization of the Human Hair Keratin–Associated Protein 2 (KRTAP2) Gene Family

52 citations , April 2012 in “Journal of Investigative Dermatology”

KRTAP2 genes are crucial for hair structure and may impact hair disorders and treatments.

research Single nucleotide polymorphisms in the KRT82 promoter region modulate irregular thickening and patchiness in the dorsal skin of New Zealand rabbits

2 citations , May 2024 in “BMC Genomics”

Certain genetic changes in the KRT82 gene may cause patchy skin in New Zealand rabbits.

research A KRT71 Loss-of-Function Variant Results in Inner Root Sheath Dysplasia and Recessive Congenital Hypotrichosis of Hereford Cattle

2 citations , July 2021 in “Genes”

A specific genetic change in the KRT71 gene causes a hair loss condition in Hereford cattle.

research Regulation of a hair follicle keratin intermediate filament gene promoter

39 citations , December 1998 in “Journal of Cell Science”

The LEF-1 binding site enhances gene expression in hair follicles, with other proteins aiding specific regulation.

research Utilizing functional genomics approaches to characterize risk genes in alopecia areata

January 2020 in “Columbia Academic Commons (Columbia University)”

Certain genetic changes in the STX17 and KRT82 genes contribute to hair loss in alopecia areata.

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