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.
January 2015 in “Hair transplant forum international” Female pattern hair loss is different from male pattern hair loss and has unclear genetic causes.
56 citations
,
July 2004 in “Mechanisms of Development” Pax9 is crucial for proper tongue surface development and preventing skin-like changes.
6 citations
,
November 2018 in “Case reports in nephrology and dialysis” Rituximab may be an effective treatment for Cronkhite-Canada syndrome with kidney disease.
January 2024 in “Pediatric Dermatology” Minoxidil improved hair growth in a child with a rare genetic disorder.
44 citations
,
May 1998 in “PubMed” The retinoid receptor antagonist effectively disrupts vitamin A-related development in embryos.
4 citations
,
October 2023 in “Children” Early diagnosis and comprehensive care are crucial for managing Focal Dermal Hypoplasia's complex symptoms.
53 citations
,
January 2013 in “Journal of toxicologic pathology” The project created a standardized system for classifying skin lesions in lab rats and mice.
16 citations
,
March 2021 in “EvoDevo” Different species use the same genes for tooth regeneration.
5 citations
,
January 2020
1 citations
,
December 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Keeping β-catenin levels high in mammary cells disrupts their development and branching.
1 citations
,
April 2023 in “Animals” Deleting the EDAR gene in Cashmere goats affects genes and proteins related to hair growth.
December 2022 in “American journal of medical genetics. Part A” A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.
46 citations
,
August 2006 in “Mechanisms of Development” Runx1 is crucial for proper hair structure and development.
1 citations
,
November 2022 in “International journal of molecular sciences” Human fetal placental stromal cell injections speed up healing and improve skin and hair recovery after radiation damage.
December 2025 in “Journal of Clinical Medicine” Surgical debridement and targeted therapies can effectively heal chronic wounds in KID syndrome.
March 2024 in “Indian Journal of Dermatology” The man was diagnosed with Cronkhite-Canada syndrome, a rare disorder with GI polyps, skin issues, hair loss, and nail problems.
August 2022 in “Journal of Comprehensive Pediatrics” A girl with a rare genetic disorder had a unique bone condition, highlighting the need for careful diagnosis and suggesting the disorder might be more common than thought.
854 citations
,
February 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” Understanding hair follicle development can help treat hair loss, skin regeneration, and certain skin cancers.
189 citations
,
July 2009 in “The Journal of clinical investigation/The journal of clinical investigation” Epidermolysis bullosa simplex causes easily blistered skin due to faulty skin cell proteins, leading to new treatment ideas.
88 citations
,
June 2000 in “Journal of Investigative Dermatology” Keratin 17 is important for hair and nail structure and affects pachyonychia congenita symptoms.
87 citations
,
September 2012 in “Journal of Cell Science” Keratins are crucial for tissue strength, and mutations in keratin genes can lead to various diseases, highlighting the need for targeted therapies.
83 citations
,
October 1998 in “The American Journal of Human Genetics” A specific gene mutation causes complete hair loss in an Irish Traveller family.
79 citations
,
February 2009 in “Human Genetics” 71 citations
,
January 2011 in “Orphanet Journal of Rare Diseases” IFAP syndrome is a rare genetic disorder causing skin, hair, and eye issues, with limited treatment options.
44 citations
,
February 2023 in “Cell” Fingerprints form uniquely before birth due to specific genetic pathways and local signals.
40 citations
,
November 2021 in “International Journal of Molecular Sciences” Mutant keratins cause inflammation in Epidermolysis Bullosa Simplex, suggesting targeting them could help treat the disorder.
33 citations
,
August 2008 in “American Journal Of Pathology” Hedgehog signaling is essential for normal sebaceous gland development and affects keratin 6a expression.
30 citations
,
December 2014 in “BMC Genetics” Certain genes and proteins may influence wool growth in Aohan fine wool sheep.