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research Sequence of the intron/exon junctions of the coding region of the human androgen receptor gene and identification of a point mutation in a family with complete androgen insensitivity.

32 citations , November 2020 in “UNC Libraries”

A point mutation in the androgen receptor gene causes complete androgen insensitivity.

Alopecia Areata Susceptibility Variant Identified by MHC Risk Haplotype Sequencing Reproduces Symptomatic Patched Hair Loss in Mice

research Alopecia areata susceptibility variant identified by MHC risk haplotype sequencing reproduces symptomatic patched hair loss in mice

April 2018 in “bioRxiv (Cold Spring Harbor Laboratory)”

A gene variant causes patched hair loss in mice, similar to alopecia areata in humans.

research A novel missense mutation (C622G) in the zinc‐finger domain of the human hairless gene associated with congenital atrichia with papular lesions

47 citations , April 2000 in “Experimental Dermatology”

A new gene mutation causes a rare type of hair loss.

research Identification of differentially expressed genes HSPC016 in dermal papilla cells with aggregative behavior

5 citations , August 2005 in “Archives of Dermatological Research”

HSPC016 gene is important for hair growth.

Characterization of the Ovine KRTAP36-1 Gene in Chinese Tan Lambs and Its Impact on Selected Wool Traits

research Characterisation of the Ovine KRTAP36-1 Gene in Chinese Tan Lambs and Its Impact on Selected Wool Traits

August 2025 in “Animals”

The KRTAP36-1 gene affects wool quality in Chinese Tan lambs.

research A cluster of 21 keratin-associated protein genes within introns of another gene on human chromosome 21q22.3

34 citations , January 2004 in “Genomics”

A cluster of 21 keratin-associated protein genes important for hair growth was found on human chromosome 21.

Hair Keratin Associated Proteins: Characterization of a Second High Sulfur KAP Gene Domain on Human Chromosome 21 in Fond Memory of Dr. Peter Steinert

research Hair Keratin Associated Proteins: Characterization of a Second High Sulfur KAP Gene Domain on Human Chromosome 2111In fond memory of Dr Peter Steinert.

62 citations , January 2004 in “The journal of investigative dermatology/Journal of investigative dermatology”

A second domain of high sulfur KAP genes on chromosome 21q23 is crucial for hair structure.

research Exome-wide age-of-onset analysis reveals exonic variants in ERN1, TACR3 and SPPL2C associated with Alzheimer’s disease

January 2020 in “bioRxiv (Cold Spring Harbor Laboratory)”

Certain genetic variants in ERN1, TACR3, and SPPL2C are linked to when Alzheimer's disease starts.

research Fine Mapping and Identifying the Mutation Gene of snthr -1Bao ScantHair Mouse

July 2009 in “TSpace”

The scant hair in snthr-1Bao mice is likely caused by a deletion affecting the Plcd1 gene.

research Deletion analysis of AGD1 reveals domains crucial for its plasma membrane recruitment and function in root hair polarity

11 citations , June 2017 in “Journal of cell science”

AGD1's PH domain is essential for its role in root hair growth and polarity.

research A Novel Mutation in theMBTPS2Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome

1 citations , January 2022 in “Annals of Dermatology”

A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.

Identification and Characterization of a Novel Pathogenic Mutation in the Human Lipodystrophy Gene AGPAT2

research Identification and Characterisation of a Novel Pathogenic Mutation in the Human Lipodystrophy Gene AGPAT2

8 citations , January 2012 in “JIMD reports”

A new mutation in the AGPAT2 gene causes severe fat tissue loss and related health issues by reducing the protein's levels.

Novel Adenosine Triphosphate-Binding Cassette, Subfamily A, Member 12 Mutations Associated with Congenital Ichthyosiform Erythroderma

research Novel adenosine triphosphate (ATP)-binding cassette, subfamily A, member 12 (ABCA12) mutations associated with congenital ichthyosiform erythroderma

11 citations , September 2011 in “British Journal of Dermatology”

New ABCA12 gene mutations were linked to a skin condition with scaling and hair loss, and a treatment helped with hair loss in a related case.

research Atypical Protein Kinase C Isoform, aPKCλ, Is Essential for Maintaining Hair Follicle Stem Cell Quiescence

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

aPKCλ is crucial for keeping hair follicle stem cells inactive and maintaining normal hair growth.

research Role of the Autoimmune Regulator (AIRE) gene in alopecia areata: Strong association of a potentially functional AIRE polymorphism with alopecia universalis

86 citations , December 2002 in “Tissue Antigens”

A specific gene change is linked to severe hair loss.

research Identification of the Ovine Keratin-Associated Protein 21-1 Gene and Its Association with Variation in Wool Traits

7 citations , July 2019 in “Animals”

The KRTAP21-1 gene affects wool yield and can help improve wool production.

research Long-read RNA sequencing reveals extensive transcript isoform changes in a patient with IFAP syndrome with a recurrent intronic MBTPS2 variant

April 2026 in “Human Genome Variation”

Long-read RNA sequencing can identify complex gene changes in IFAP syndrome.

research Krtap16, Characterization of a New Hair Keratin-associated Protein (KAP) Gene Complex on Mouse Chromosome 16 and Evidence for Regulation by Hoxc13

47 citations , September 2004 in “Journal of Biological Chemistry”

Hoxc13 regulates specific hair protein genes on mouse chromosome 16.

research Mutation of a type II keratin gene (K6a) in pachyonychia congenita

232 citations , July 1995 in “Nature Genetics”

research A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2

January 2023 in “Revista Paulista de Pediatria”

A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.

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 Variation in the caprine keratin-associated protein 15-1 (KAP15-1) gene affects cashmere fibre diameter

30 citations , March 2019 in “Archives animal breeding/Archiv für Tierzucht”

The KRTAP15-1 gene affects cashmere fiber thickness in goats.

research PRC 2 preserves intestinal progenitors and restricts secretory lineage commitment

75 citations , September 2016 in “EMBO journal”

PRC2 is essential for maintaining intestinal cell balance and aiding regeneration after damage.

research Scd1 ab-Xyk : a new asebia allele characterized by a CCC trinucleotide insertion in exon 5 of the stearoyl-CoA desaturase 1 gene in mouse

12 citations , July 2004 in “Molecular genetics and genomics”

A new mouse mutation causes skin and hair defects due to a gene change.

research 8368 Functional Evaluation Of Novel CYP21A2 Variants: Expanding The Genetic Basis Of Non-classic CAH

October 2024 in “Journal of the Endocrine Society”

Certain genetic variants reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia.

Bioinformatics Analysis of Genes Associated with Patchy-Type Alopecia Areata: CD2 May Be a New Therapeutic Target

research Bioinformatics analysis of genes associated with the patchy-type alopecia areata: CD2 may be a new therapeutic target

4 citations , September 2019 in “Biomedical Papers/Biomedical Papers of the Faculty of Medicine of Palacký University, Olomouc Czech Republic”

CD2 might be a new treatment target for patchy alopecia areata.

CRABP2 Promotes the Proliferation of Dermal Papilla Cells via the Wnt/Beta-Catenin Pathway

research CRABP2 Promotes the Proliferation of Dermal Papilla Cells via the Wnt/β-Catenin Pathway

1 citations , June 2023 in “Animals”

CRABP2 helps increase the growth of cells important for hair growth by activating a specific growth pathway.

A New Heterozygous Variant of c.1225_1227delTTC (p.Phe409del) in Insulin Receptor Gene Associated with Severe Insulin Resistance and Hyperandrogenemia in an Adolescent Female with Type A Severe Insulin Resistance Syndrome

research A New Heterozygous Variant of c.1225_1227delTTC (p.Phe409del) in Insulin Receptor Gene Associated with Severe Insulin Resistance and Hyperandrogenemia in an Adolescent Female with Type A Severe Insulin Resistance Syndrome

1 citations , November 2024 in “Diabetes Metabolic Syndrome and Obesity”

A specific gene variant is linked to severe insulin resistance and hormone imbalance in a teenage girl.

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 An Updated Nomenclature for Keratin-Associated Proteins (KAPs)

92 citations , January 2012 in “International Journal of Biological Sciences”

The document introduced a new naming system for keratin-associated proteins to improve clarity and communication across species.

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