2 citations,
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.
1 citations,
July 2017 in “Skin appendage disorders” A 9-year-old Hispanic girl has Uncombable Hair Syndrome, which may improve with age and biotin treatment.
January 2018 in “Indian Dermatology Online Journal” A child with Olmsted syndrome showed mild improvement in hair and skin issues with treatment.
92 citations,
November 2006 in “Proceedings of the National Academy of Sciences of the United States of America” BMP signaling controls hair follicle size and cell growth by affecting cell cycle genes.
90 citations,
June 2006 in “The American Journal of Dermatopathology” The document concludes that accurate diagnosis of different types of hair loss requires careful examination of hair and scalp tissue, considering both clinical and microscopic features.
71 citations,
November 2005 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings” Edar signaling is crucial for proper hair follicle development and function.
44 citations,
November 1998 in “Australasian Journal of Dermatology” Accurate diagnosis is key for treating different kinds of hair loss, and immune response variations may affect the condition and treatment results.
7 citations,
November 2000 in “Clinics in Dermatology” Most hair loss in children is caused by a few common conditions and is easy to diagnose, but rare types require careful evaluation.
February 2023 in “JEADV Clinical Practice” Biotin supplements significantly improved a young girl's uncombable hair.
51 citations,
August 2013 in “The Journal of experimental medicine/The journal of experimental medicine” Loss of a specific protein in skin cells causes symptoms similar to psoriasis.
1 citations,
January 2019 in “Journal of Dermatology and Dermatologic Surgery” Stem cell therapy shows promise for hair loss treatment, but more research is needed to confirm its effectiveness.
July 2023 in “Developmental medicine and child neurology/Developmental medicine & child neurology” DFMO treatment improves hair growth, muscle tone, and development in Bachmann-Bupp syndrome patients.
55 citations,
November 2010 in “Journal of Allergy and Clinical Immunology” The L412F variant of TLR3 is linked to skin infections, more viral infections, and autoimmune issues.
10 citations,
November 2018 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” Early diagnosis of Trichorhinophalangeal syndrome type 1 is crucial for treatment and was achieved through clinical examination and family history.
6 citations,
December 2015 in “Medicine” Cronkhite-Canada syndrome may be more treatable and less severe than previously thought.
188 citations,
June 1998 in “Molecular cell” Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
81 citations,
September 2009 in “Birth defects research” Different body areas in mice produce different hair types due to interactions between skin layers.
21 citations,
July 2022 in “Orphanet journal of rare diseases” New treatments for ichthyosis, like protein replacement and gene therapy, show promise and may become standard care.
23 citations,
October 2021 in “Cell Stem Cell” Hair thinning causes stem cell loss through a process involving Piezo1, calcium, and TNF-α.
12 citations,
February 2023 in “Journal of Personalized Medicine” Type 1 diabetes often occurs with other autoimmune diseases, and personalized treatment based on genetics can improve outcomes.
September 2022 in “JAAD case reports” The man has a genetic skin condition called pachyonychia congenita.
October 2024 in “Medicine” Cronkhite-Canada syndrome is rare, has a poor prognosis, and requires early diagnosis and ongoing treatment.
165 citations,
December 2004 in “Differentiation” BMP signaling is crucial for skin and hair growth.
105 citations,
October 2017 in “Stem cells” Wnt signaling is crucial for skin development and hair growth.
31 citations,
August 2021 in “Stem Cell Research & Therapy” The conclusion is that understanding how hair follicle stem cells live or die is important for maintaining healthy tissue and repairing injuries, and could help treat hair loss, but there are still challenges to overcome.
31 citations,
September 2012 in “Journal of biological chemistry/The Journal of biological chemistry” The right amount of retinoic acid is essential for normal hair growth and development.
11 citations,
October 2021 in “Frontiers in Cell and Developmental Biology” Non-coding RNAs are important for hair growth and could lead to new hair loss treatments, but more research is needed.
11 citations,
May 2012 in “Genesis” Bmpr2 and Acvr2a receptors are crucial for hair retention and color.
5 citations,
December 2021 in “Frontiers in Cell and Developmental Biology” Enzymes called PADIs play a key role in hair growth and loss.
September 2023 in “Nature Communications” Rare genetic variants in five specific genes are linked to male-pattern hair loss but only account for a small part of the risk.