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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.

HPV8 E6 Induced STAT3 Activation Leads to Hair Follicle Junctional Zone Keratinocyte Stem Cell Proliferation and Expansion in Actinic Keratoses

research 277 HPV8 E6 induced STAT3 activation leads to hair follicle junctional zone keratinocyte stem cell proliferation and expansion in actinic keratoses

April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology”

HPV8 causes hair follicle stem cells to grow, leading to skin lesions.

research Vesicle Formation and Follicular Root Sheath Separation in Mice Homozygous for Deleterious Alleles at the Balding (bal) Locus

38 citations , September 1997 in “The journal of investigative dermatology/Journal of investigative dermatology”

A mutation in mice causes hair loss and skin issues due to a defect in a gene affecting cell adhesion.

Comprehensive Program Planning for the Integration of 21st Century Learning Center After-School Programs with Regular Day Programs and Community Partners

research Comprehensive Program Planning for the Integration of 21st Century Learning Center After-School Programs with Regular Day Programs and Community Partners.

January 1999 in “American Journal of Medical Genetics Part A”

The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.

research BAC-mediated gene-dosage analysis reveals a role for Zipro1 (Ru49/Zfp38) in progenitor cell proliferation in cerebellum and skin

117 citations , August 1999 in “Nature Genetics”

research 726 The Wnt-inhibitor Dkk4 is required for primary hair follicle induction and patterning

July 2022 in “Journal of Investigative Dermatology”

Dkk4 is necessary for the initial development and arrangement of hair follicles.

research Matriptase/MT-SP1 is required for postnatal survival, epidermal barrier function, hair follicle development, and thymic homeostasis

324 citations , May 2002 in “Oncogene”

Characterization of a Cluster of Human High/Ultrahigh Sulfur Keratin-Associated Protein Genes Embedded in the Type I Keratin Gene Domain on Chromosome 17q12-21

research Characterization of a Cluster of Human High/Ultrahigh Sulfur Keratin-associated Protein Genes Embedded in the Type I Keratin Gene Domain on Chromosome 17q12-21

98 citations , June 2001 in “Journal of biological chemistry/The Journal of biological chemistry”

A cluster of sulfur-rich hair protein genes was found on chromosome 17.

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

27 citations , April 2004 in “Biochemical and Biophysical Research Communications”

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

research Radially patterned morphogenesis of murine hair follicle placodes ensures robust epithelial budding

8 citations , October 2024 in “Developmental Cell”

research 318 The Wnt-inhibitor Dkk4 is required for primary hair follicle induction and patterning

October 2021 in “Journal of Investigative Dermatology”

Dkk4 protein is necessary for the proper development and arrangement of hair follicles.

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 Identification of dkk4 as a target of Eda-A1/Edar pathway reveals an unexpected role of ectodysplasin as inhibitor of Wnt signalling in ectodermal placodes

117 citations , April 2008 in “Developmental biology”

Ectodysplasin inhibits Wnt signaling to help form hair follicles.

research Two’s Company, Three’s a Hair Cycle? hfDSCs Join the Hair Germ–Dermal Papilla Regulatory Interface

October 2025 in “Journal of Investigative Dermatology”

Hair follicle dermal stem cells help control hair growth timing by regulating signals at the hair germ–dermal papilla interface.

research Whole-genome SNP genotyping mapped a novel locus for hereditary hypotrichosis on chromosome 2q31.1–q32.2

May 2015 in “Journal of Dermatological Science”

Researchers found a new area on chromosome 2 linked to a genetic hair loss condition.

research Post SARS-CoV-2 vaccination effluvium

September 2022 in “European Journal of Dermatology”

Gene sequencing is essential for diagnosing Junctional epidermolysis bullosa.

research Cantú Syndrome Is Caused by Mutations in ABCC9

148 citations , May 2012 in “The American Journal of Human Genetics”

Cantú syndrome is caused by mutations in the ABCC9 gene.

research Gain‐of‐function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities

28 citations , November 2018 in “American Journal of Medical Genetics Part A”

ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.

research A 4kb Fragment of the Desmocollin 3 Promoter Directs Reporter Gene Expression to Parakeratotic Epidermis and Primary Hair Follicles

1 citations , July 2006 in “Journal of Investigative Dermatology”

A 4kb fragment of the desmocollin 3 promoter targets gene expression to specific skin and hair follicle areas.

research Syntaxin 9 is Enriched in Skin Hair Follicle Epithelium and Interacts With the Epidermal Growth Factor Receptor

13 citations , December 2005 in “Traffic”

Syntaxin 9 helps in transporting and signaling of the EGF receptor in skin and stomach cells.

research An Australian family with macular dystrophy linked to autosomal recessive alopecia universalis

3 citations , February 2001 in “British journal of ophthalmology”

An Australian with rare hair loss and eye conditions had a gene linked to both, not seen together before.

research Characterization of a gene encoding a cysteine-rich keratin associated protein synthesized late in rabbit hair follicle differentiation

26 citations , March 1995 in “Differentiation”

A rabbit gene important for hair development was identified and detailed.

research Disturbed Keratinocyte Differentiation in Transgenic Mice and Organotypic Keratinocyte Cultures as a Result of Spermidine/Spermine N1-Acetyltransferase Overexpression

37 citations , February 2005 in “Journal of Investigative Dermatology”

Overexpression of SSAT causes hair loss and skin issues, but reducing putrescine can help.

research Epidermal abnormalities and increased malignancy of skin tumors in human epidermal keratin 8‐expressing transgenic mice

49 citations , August 2004 in “The FASEB Journal”

Mice with human skin protein K8 had more skin problems and cancer.

research Trps1 activates a network of secreted Wnt inhibitors and transcription factors crucial to vibrissa follicle morphogenesis

59 citations , November 2011 in “Development”

Trps1 is essential for proper hair follicle development.

research The pioneer factor SOX9 competes for epigenetic factors to switch stem cell fates

6 citations , July 2023 in “Nature cell biology”

SOX9 helps determine stem cell roles by interacting with DNA and proteins that control gene activity.

research DSG4 Gene Variants as a Cause of Hypotrichosis in the Child with Severe Atopic Dermatitis: Clinical Case

November 2023 in “Вопросы современной педиатрии”

Genetic testing can diagnose hair loss linked to DSG4 gene variants.

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