35 citations
,
May 2006 in “Journal of Investigative Dermatology” Monilethrix involves multiple genes affecting hair structure, including DSG4 mutations.
2 citations
,
November 2022 in “Skin research and technology” 5% topical minoxidil improves hair density and quality in monilethrix patients.
9 citations
,
November 2014 in “Indian Journal of Endocrinology and Metabolism” A 15-year-old girl with rare reproductive disorders received hormone therapy to develop secondary sexual traits, but infertility persisted.
39 citations
,
November 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” Fatp4 is crucial for healthy skin development and function.
54 citations
,
May 2015 in “Endocrinology” Manipulating 5α-reductase type 2 can affect liver fat production and glucocorticoid effects.
88 citations
,
October 1983 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” Patients with this syndrome can have different responses and worsening resistance to treatment over time.
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.
37 citations
,
April 2018 in “Journal of Allergy and Clinical Immunology” A mutation in the IKZF1 gene causes immune system overactivity, linked to autoimmune diseases like lupus.
5 citations
,
December 2018 in “Frontiers in Endocrinology” Differences in androgen receptor expression and tissue properties may lead to higher cryptorchidism risk in certain rats.
73 citations
,
December 2015 in “Nature Genetics” Mutations in TBX3 cause horses to have more even hair color instead of Dun camouflage.
6 citations
,
January 2004 in “DNA Research” A mutation in the Sgkl gene causes defective hair growth in mice.
April 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” RPGRIP1L helps skin cells stick together by blocking PKCβII, which can prevent skin blistering like in pemphigus.
6 citations
,
April 2017 in “Experimental dermatology” CD80CD86 deficiency causes hair loss by disrupting regulatory T cells.
6 citations
,
April 2023 in “Current Issues in Molecular Biology” A specific gene variant may increase the risk of developing Alopecia Areata.
122 citations
,
July 1994 in “Journal of Investigative Dermatology” 1 citations
,
September 2023 in “Frontiers in Genetics” A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.
9 citations
,
January 1975 in “Munich Personal RePEc Archive (Ludwig Maximilian University of Munich)” Rothmund-Thomson syndrome causes skin changes, hair loss, and slightly high lysine and cystine in urine.
April 2018 in “Journal of Investigative Dermatology” Cutaneous lupus patients have higher levels of certain immune cells in their blood and skin.
1 citations
,
January 1992 in “DNA sequence” Researchers found a non-functional sheep keratin gene due to mutations.
49 citations
,
August 1999 in “Journal of Investigative Dermatology” Overexpressing the MSX-2 gene in mice causes skin and hair growth issues.
11 citations
,
December 2014 in “The American journal of pathology” A gene deletion in mice causes weak protein, immune issues, hair loss, airway problems, and wasting disease.
22 citations
,
April 2012 in “The American journal of pathology” Loss of Msx2 function causes eye development issues similar to Peters anomaly.
September 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” The treatments stopped hair regrowth in mice.
23 citations
,
January 1985 in “Journal of Neuropathology & Experimental Neurology” Cupric chloride treatment corrected abnormal Purkinje cell development in brindled mice.
16 citations
,
January 2005 in “The International Journal of Developmental Biology” Hex gene plays a crucial role in starting feather development in chick embryos.
6 citations
,
January 2024 in “Annals of Dermatology” Dickkopf-related Protein 2 can help hair grow by activating a specific cell pathway.
68 citations
,
November 2011 in “The American journal of pathology” Abnormal Hedgehog signaling in blood cancers may help tumors grow and resist chemotherapy, suggesting potential for targeted treatments.
February 2025 in “Journal of Paediatrics and Child Health” Genetic analysis is crucial for diagnosing ectodermal dysplasia syndromes, and new therapies may help improve skin issues.
13 citations
,
March 2020 in “Genes” Disrupting the FGF5 gene in rabbits leads to longer hair by extending the hair growth phase.
September 2016 in “Journal of dermatological science” The conclusion is that the variation in hair thinness in patients is mostly due to the amount of underdeveloped hairs, and treatments that thicken fine hairs might work for those with mild to severe conditions.