578 citations
,
April 1993 in “Cell” TGFα gene mutation in mice causes abnormal skin, wavy hair, curly whiskers, and sometimes eye inflammation.
February 2016 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.
April 2017 in “Journal of Investigative Dermatology” The protein CTCF is essential for skin development, maintaining hair follicles, and preventing inflammation.
22 citations
,
March 1994 in “Journal of Heredity” A mutation in mice causes hair loss and immune problems.
February 2024 in “New phytologist” DNA changes in tetraploid wheat improve root growth and nitrogen use.
July 2024 in “British journal of dermatology/British journal of dermatology, Supplement” A variant in the KRT31 gene causes a rare hereditary hair disorder called monilethrix.
4 citations
,
August 2013 in “Chinese Medical Journal” A specific gene mutation in KRT86 is linked to hair disorder in a Chinese Han family.
181 citations
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January 2009 in “Nature Genetics” Certain mutations in a hair growth-related gene cause a type of genetic hair loss.
July 2025 in “Journal of Investigative Dermatology” Tissue-engineered skin substitutes can model junctional epidermolysis bullosa and may help develop gene therapy.
79 citations
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October 2003 in “PubMed” Overexpression of PKCepsilon leads to increased TNFalpha, promoting metastatic squamous cell carcinoma in mice.
August 2026 in “International Journal of Pharmaceutical and Clinical Research” Gene therapy and new treatments offer hope for HTRA1-related disorders.
January 2012 in “Infoscience (Ecole Polytechnique Fédérale de Lausanne)” Human thymus has stem cells that can self-renew and maintain their identity.
November 1997 in “Open Archive (Karolinska Institutet)” PTCH gene mutations contribute to basal cell carcinoma development.
2 citations
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April 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” MendelVar is a tool that helps identify important genes by combining GWAS data with Mendelian disease information.
165 citations
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September 2001 in “Genes & development” CDP is crucial for lung and hair follicle cell development.
28 citations
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December 1997 in “Journal of Biological Chemistry” A genetic mutation in the hHa1 gene creates a smaller, but still functional, hair protein without causing hair problems.
3 citations
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July 2022 in “Brain and Behavior” The HtrA1L364P mutation causes brain dysfunction and blood vessel damage.
3 citations
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October 2024 in “Animals” An allele of the KRTAP13-2 gene may improve wool quality in sheep.
8 citations
,
October 2012 in “Transgenic Research” Overexpressing the human H-ferritin gene in mice causes mild growth delay and temporary hair loss.
44 citations
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May 1997 in “Journal of Biological Chemistry” The human keratin 6a gene's specific sequences trigger expression in skin layers after injury.
79 citations
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June 1993 in “Molecular and Cellular Biology” The K5 promoter controls gene expression in skin cells, with specific DNA segments crucial for targeting and regulation.
October 2023 in “Lithuanian University of Health Sciences” The TG5 gene affects beef cattle weight, and the CC genotype leads to higher weights.
The scant hair in snthr-1Bao mice is likely caused by a deletion affecting the Plcd1 gene.
26 citations
,
February 1998 in “DNA and Cell Biology” K6 gene expression can be controlled and manipulated in mice for studying skin disorders.
6 citations
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October 1998 in “Experimental Dermatology” Normal skin results from interactions between EGF and the Tabby mutation.
January 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Certain genetic variants in ERN1, TACR3, and SPPL2C are linked to when Alzheimer's disease starts.
1 citations
,
October 1996 in “Journal of Cutaneous Medicine and Surgery” Gene therapy shows promise for treating skin disorders and cancer, but faces technical challenges.
69 citations
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January 2013 in “Frontiers in Immunology” The FOXN1 gene is crucial for developing immune cells and preventing immune disorders.
96 citations
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June 2017 in “Nature Communications” A WNT10A gene mutation leads to ectodermal dysplasia by disrupting cell growth and differentiation.
60 citations
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August 2008 in “Human molecular genetics online/Human molecular genetics” A position effect on the TRPS1 gene causes excessive hair growth in humans and mice.