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.
November 2025 in “American Journal of Case Reports” Genetic testing is crucial for diagnosing and treating acrodermatitis enteropathica effectively.
RNA-based treatments show promise for managing Hutchinson-Gilford Progeria Syndrome.
26 citations
,
November 2009 in “Journal of Endocrinological Investigation” Certain gene variations are not a major cause of male infertility in Nigerian men.
September 2023 in “International journal of science and healthcare research” Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.
28 citations
,
July 2007 in “Development” TAF4 is important for skin cell growth and helps prevent skin cancer in mice.
October 2020 in “The American Journal of Gastroenterology” Early diagnosis and treatment of hereditary hemochromatosis can prevent serious complications.
36 citations
,
October 2000 in “British Journal of Dermatology” A different gene near the hairless gene on chromosome 8p21 causes a rare hair loss condition in a German family.
59 citations
,
June 2008 in “Journal of The American Academy of Dermatology” The article explains the genetic causes and symptoms of various hair disorders and highlights the need for more research to find treatments.
1 citations
,
September 2021 in “Frontiers in genetics” A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
16 citations
,
September 2014 in “International Journal of Biological Markers” Longer CAG and GGN repeats increase alopecia risk, but no significant link to post-finasteride syndrome found.
95 citations
,
September 2012 in “Oman Medical Journal” Mutations in keratin genes can cause skin and mucosa disorders.
5 citations
,
January 2016 in “Open Journal of Regenerative Medicine” Myoblast transplantation shows promise for treating various muscle and heart conditions.
211 citations
,
February 1994 in “Proceedings of the National Academy of Sciences” Too much parathyroid hormone-related protein in skin disrupts hair growth in mice.
17 citations
,
February 2015 in “Experimental Dermatology” Keratins are crucial for hair strength, and mutations in certain keratin genes cause hair disorders.
5 citations
,
May 2011 in “European Journal of Medical Genetics” A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.
2 citations
,
September 2017 in “Journal of Investigative Dermatology” Notch1 signaling is impaired in hidradenitis suppurativa, affecting skin and hair cells.
January 2003 in “Hepatology”
7 citations
,
January 2021 in “The journal of gene medicine” Certain genetic differences may affect how likely someone is to get COVID-19 and how severe it might be.
May 2025 in “The FASEB Journal” Targeting the TNFRSF1B gene may help treat hair loss.
August 2023 in “Sabuncuoglu Serefeddin Health Sciences” CT60 polymorphism might increase the risk of Alopecia Areata.
1 citations
,
December 2023 in “Curēus” Most children with a common hemochromatosis genotype had elevated iron levels but no severe symptoms.
December 2024 in “Kırıkkale Üniversitesi Tıp Fakültesi Dergisi” Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.
July 2022 in “Journal of Investigative Dermatology” A specific mutation in Kras causes abnormal tissue changes by making a cell signal continuously active, which disrupts normal cell coordination.
May 2015 in “Journal of Investigative Dermatology” Melanoma risk tools need improvement, a gene mutation causes a hair disorder that might be treated by managing cell stress, a potential therapy for a skin-ear disorder involves blocking cell channels, skin wrinkling may indicate lung aging regardless of smoking, and oxidative stress might contribute to common baldness.
2 citations
,
May 2007 in “Pediatrics in Review” Thorough history and examination are crucial for diagnosing genetic disorders like juvenile polyposis and hypomelanosis of Ito.
115 citations
,
October 2009 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.
297 citations
,
January 2002 in “Development” Overexpression of ΔNLef1 in mouse skin leads to hair loss, cysts, and skin tumors.
24 citations
,
January 2019 in “Theranostics” Loss of Pten in certain hair follicle stem cells increases skin cancer risk.
8 citations
,
June 2016 in “Journal of Investigative Dermatology” A rare genetic deletion in the KRT1 gene causes unique skin symptoms in a family.