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research A 5'-upstream region of a bovine keratin 6 gene confers tissue-specific expression and hyperproliferation-related induction in transgenic mice.

46 citations , May 1995 in “Proceedings of the National Academy of Sciences”

A specific gene region can control targeted and responsive gene expression in mice, useful for skin disorder treatments.

research Characterization of a 190-Kilobase Pair Domain of Human Type I Hair Keratin Genes

74 citations , October 1998 in “Journal of biological chemistry/The Journal of biological chemistry”

The 190-kbp domain contains all human type I hair keratin genes, showing their organization and evolution.

The Human Type I Keratin Gene Family: Characterization of New Hair Follicle Specific Members and Evaluation of the Chromosome 17q21.2 Gene Domain

research The human type I keratin gene family: Characterization of new hair follicle specific members and evaluation of the chromosome 17q21.2 gene domain

70 citations , December 2004 in “Differentiation”

The study identified and characterized new keratin genes linked to hair follicles and epithelial tissues.

research Keratin 79 is a PPARA target that is highly expressed by liver damage

1 citations , January 2023 in “Biochemical and biophysical research communications”

Keratin 79 is linked to liver damage and may help diagnose liver diseases.

research Characterization of a 300 kbp Region of Human DNA Containing the Type II Hair Keratin Gene Domain

77 citations , March 2000 in “Journal of Investigative Dermatology”

The research identified six functional hair keratin genes and four pseudogenes, providing insights into hair formation and gene organization.

DSP c.6310delA p.(Thr2104Glnfs*12) Associates With Arrhythmogenic Cardiomyopathy, Increased Trabeculation, Curly Hair, and Palmoplantar Keratoderma

research DSP c.6310delA p.(Thr2104Glnfs*12) associates with arrhythmogenic cardiomyopathy, increased trabeculation, curly hair, and palmoplantar keratoderma

1 citations , March 2023 in “Frontiers in Cardiovascular Medicine”

A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.

research Concerted gene duplications in the two keratin gene families

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

research Expression of novel keratin associated protein 5 genes in the cuticle layer of human hair follicles

6 citations , April 2005 in “Journal of dermatological science”

The study found nine new hair protein genes in human hair follicles.

research Large Intragenic KRT1 Deletion Underlying Atypical Autosomal Dominant Keratinopathic Ichthyosis

8 citations , June 2016 in “Journal of Investigative Dermatology”

A rare genetic deletion in the KRT1 gene causes unique skin symptoms in a family.

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 Human Hair Keratin-Associated Proteins

71 citations , August 2005 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings”

Hair keratin-associated proteins are essential for strong hair, with over 80 genes showing specific patterns and variations among people.

Deficient Plakophilin-1 Expression Due to a Mutation in PKP1 Causes Ectodermal Dysplasia-Skin Fragility Syndrome in Chesapeake Bay Retriever Dogs

research Deficient Plakophilin-1 Expression Due to a Mutation in PKP1 Causes Ectodermal Dysplasia-Skin Fragility Syndrome in Chesapeake Bay Retriever Dogs

28 citations , February 2012 in “PLoS ONE”

A PKP1 gene mutation causes skin fragility and hair loss in Chesapeake Bay retriever puppies.

research A kindred with mutant IKAROS and autoimmunity

37 citations , April 2018 in “Journal of Allergy and Clinical Immunology”

A mutation in the IKZF1 gene causes immune system overactivity, linked to autoimmune diseases like lupus.

research Molecular Cloning of 5′ Flanking Region of Ovine Keratin Associated Protein 6-1 Gene and Comparison of the Sequences

January 2007 in “Journal of Inner Mongolia University”

The research helps in creating genetically modified animals to study hair growth.

research Deficiency of kinase suppressor of Ras1 prevents oncogenic ras signaling in mice.

114 citations , July 2003 in “PubMed”

Lack of KSR1 stops certain skin tumors in mice.

research Disease causing homozygous variants in the human hairless gene

7 citations , December 2015 in “International Journal of Dermatology”

New and known mutations in the hairless gene cause a hair loss condition called Atrichia with papular lesions.

research Three cDNA sequences of mouse type I keratins. Cellular localization of the mRNAs in normal and hyperproliferative tissues.

57 citations , January 1987 in “Journal of Biological Chemistry”

Different keratins have unique expression patterns in mouse skin cells.

Alpha-Parvin Is Required for Epidermal Morphogenesis, Hair Follicle Development, and Basal Keratinocyte Polarity

research α-parvin is required for epidermal morphogenesis, hair follicle development and basal keratinocyte polarity

7 citations , March 2020 in “PloS one”

α-parvin is necessary for skin and hair growth and for the correct orientation of skin cells.

Poster Presentations SG11 KRT14 Pathogenic Or Likely Pathogenic Variants Beyond Epidermolysis Bullosa: Dermatopathia Pigmentosa Reticularis

research Poster presentationsSG11 KRT14 pathogenic or likely pathogenic variants beyond epidermolysis bullosa: dermatopathia pigmentosa reticularis

June 2024 in “British Journal of Dermatology”

KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.

research A frameshift mutation in HTRA1 expands CARASIL syndrome and peripheral small arterial disease to the Chinese population

21 citations , March 2015 in “Neurological Sciences”

A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.

research The Tissue-dependent Keratin 19 Gene Transcription Is Regulated by GKLF/KLF4 and Sp1

119 citations , September 2000 in “Journal of Biological Chemistry”

GKLF/KLF4 and Sp1 control Keratin 19 gene activity, influencing cancer-related changes.

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.

Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis

research Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis

21 citations , April 2014 in “PLoS ONE”

A rare gene variant causes hair and nail issues in a family.

research Molecular evolution of the keratin associated protein gene family in mammals, role in the evolution of mammalian hair (vol 8, pg 241, 2008)

January 2009

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.