3 citations
,
March 2025 in “Science Advances” A specific DNA duplication in Polish chickens affects feather shape by altering gene expression.
9 citations
,
July 2010 in “British Journal of Dermatology” The document suggests a rare skin condition might be caused by a genetic phenomenon.
74 citations
,
July 2008 in “Journal of Dermatological Case Reports” Trichoscopy is a quick and easy way to diagnose most genetic hair problems without invasive methods.
1 citations
,
June 2016 in “Medicina” Monilethrix is a genetic disorder causing brittle hair, diagnosed using tricoscopy.
The trichohyalin gene is located at chromosomal region 1q21 with other skin-related protein genes.
74 citations
,
October 2012 in “The American Journal of Human Genetics” Mutations in the HOXC13 gene cause hair and nail development issues.
January 2025 in “Dermatology Reports” Early and accurate diagnosis is crucial for managing rare genetic disorders like this localized variant of junctional epidermolysis bullosa.
July 2024 in “Journal of Investigative Dermatology” CD8+ T cells attack hair follicle stem cells, causing scarring and hair loss in Discoid Lupus.
September 2021 in “Research Square (Research Square)” Not having enough or having too much of the protein Grainyhead-like 3 leads to various developmental problems.
28 citations
,
March 2014 in “Biological reviews/Biological reviews of the Cambridge Philosophical Society” The document concludes that hair curvature can be explained by the growth patterns caused by the shape and separation of cells in the hair follicle and is affected by specific molecular pathways.
2 citations
,
July 2019 in “Indian dermatology online journal” A 17-year-old girl and her brothers have a rare hair condition with long eyelashes, thick eyebrows, and easily pluckable hair.
45 citations
,
December 2004 in “Forensic Science International” Laser microdissection helps get DNA from single hair follicles for better forensic analysis.
57 citations
,
December 2021 in “Nature Communications” Non-canonical Wnt signaling helps intestinal stem cells move to injury sites for tissue repair.
A rigid compound with a common structural motif was successfully synthesized.
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.
1 citations
,
October 2024 in “Canine Medicine and Genetics” The MLPH gene is not linked to seasonal hair loss in Rhodesian Ridgeback dogs.
1 citations
,
January 2015 in “The Journal of Dermatology” Genetic testing is crucial for diagnosing and managing non-Herlitz junctional epidermolysis bullosa.
2 citations
,
April 1970 in “Archives of Dermatology” Ichthyosis serpentina may be a variant linked to bamboo hair, with a possible genetic component.
January 2004 in “Kölner Universitäts PublikationsServer (Universität zu Köln)” Collagen XVII and CD151 affect cell movement, with CD151 inhibiting migration when bound to integrins.
13 citations
,
July 2004 in “Pediatric dermatology” A new severe form of monilethrix syndrome includes hair loss, scalp itching, cataracts, and distinct facial features.
38 citations
,
September 1997 in “The journal of investigative dermatology/Journal of investigative dermatology” A mutation in mice causes hair loss and skin issues due to a defect in a gene affecting cell adhesion.
22 citations
,
March 2017 in “Transplant Infectious Disease” Leflunomide successfully treated a rare skin condition in a liver transplant patient.
11 citations
,
February 2011 in “The Journal of Dermatology” Mutations in the hairless gene cause a rare form of permanent hair loss.
March 2023 in “JAAD case reports” A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.
1 citations
,
January 2020 in “Skin appendage disorders” A family was found with both Trichorhinophalangeal syndrome and Loose Anagen Syndrome, suggesting a genetic connection.
3 citations
,
December 2013 in “American Journal of Dermatopathology” A rare skin growth in a baby was successfully removed without coming back.
26 citations
,
January 1993 in “Dermatology” A rare case of isolated trichothiodystrophy was identified, marked by brittle hair with low sulfur content.
175 citations
,
August 1997 in “Nature Genetics” 14 citations
,
May 2009 in “Journal of the American Academy of Dermatology” The patient's scalp lesions stabilized with a combination of treatments after initial therapies failed.
May 2025 in “Journal of the ASEAN Federation of Endocrine Societies” VHL disease can cause early paragangliomas, needing lifelong monitoring.