October 2025 in “Cell Death and Disease” CD271 is crucial for maintaining healthy skin and preventing inflammation.
5 citations
,
July 2014 in “Molecular Biology Reports” January 2024 in “Animals” SP1 promotes and KROX20 inhibits hair cell growth by affecting the CUX1 gene.
50 citations
,
December 2005 in “European Journal of Immunology” RXRα is crucial for proper immune response and links diet to immune function.
3 citations
,
February 2020 in “The journal of gene medicine” A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.
11 citations
,
December 2017 in “Orphanet Journal of Rare Diseases” A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.
51 citations
,
February 2009 in “Journal of dermatological science” Pitx2 helps outer root sheath cells differentiate but can't start hair growth on its own.
128 citations
,
March 1989 in “Experimental Cell Research” Hoxc13 is important for hair and tongue development by controlling hair keratin genes.
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.
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.
38 citations
,
November 1991 in “Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin” Keratins 8 and 14 can help identify and diagnose benign skin tumors.
152 citations
,
April 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
119 citations
,
January 2000 in “British Journal of Dermatology” Different parts of the nail express different keratins, showing unique patterns of differentiation.
September 2022 in “Research Square (Research Square)” Increasing Rps14 helps grow more inner ear cells and repair hearing cells in baby mice.
1 citations
,
April 2018 in “Journal of Investigative Dermatology” PRC1 is essential for proper skin development and stem cell formation by controlling gene activity.
21 citations
,
January 2006 in “Hormone Research in Paediatrics” A mutation in the VDR gene affects hair cycling without needing ligand binding.
5 citations
,
January 2011 in “Archives de Pédiatrie” A severe form of Netherton syndrome caused by a specific gene mutation led to neonatal deaths in a family.
1 citations
,
September 2019 in “Journal of Investigative Dermatology” The research showed that CRISPR/Cas9 can fix mutations causing a skin disease in stem cells, which then improved skin grafts in mice, but more work on safety and efficiency is needed.
46 citations
,
June 2013 in “Journal of structural biology” High glycine–tyrosine keratin-associated proteins help make hair strong and maintain its shape.
40 citations
,
September 2010 in “Journal of Biological Chemistry” Keratin K80 is an ancient protein found in various tissues, important for cell structure and tissue differentiation.
9 citations
,
February 2001 in “Journal of Dermatological Science” p21waf1/cip1 and p27kip1 help in hair follicle differentiation in rats.
13 citations
,
November 2017 in “Journal of Cellular and Molecular Medicine” The workshop discussed the role of a protein called calreticulin in health and disease, its potential as a treatment target, and its possible use as a disease marker.
64 citations
,
March 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” GPRC5D is linked to the formation of hair, nails, and certain tongue areas.
28 citations
,
August 1992 in “Differentiation” A new pair of mouse keratins, 65 kD and 48 kD, are found in specific skin areas and are linked to a unique skin differentiation type.
Mutations in specific genes cause different types of ectodermal dysplasias.
October 2021 in “Journal of Investigative Dermatology” Dkk4 protein is necessary for the proper development and arrangement of hair follicles.
January 2017 in “Journal of Chemical Biological and Physical Sciences” Human hair keratin genes have unique simple sequence repeats that may help track genetic variations.
15 citations
,
November 2015 in “International Journal of Dermatology” Keratin 14 may be an autoantigen in autoimmune skin diseases.
May 2025 in “Proceedings of the National Academy of Sciences” UTX is crucial for skin differentiation and health, especially in females.
43 citations
,
August 1994 in “Journal of Investigative Dermatology”