June 2026 in “Quality in Sport” CAH requires a multidisciplinary approach, and while current treatments help, future therapies show promise.
35 citations
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May 2006 in “Journal of Investigative Dermatology” Monilethrix involves multiple genes affecting hair structure, including DSG4 mutations.
1 citations
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December 2025 in “Selçuk tıp dergisi/Selçuk Üniversitesi Tıp Fakültesi dergisi” Lower 2D:4D finger ratios in HS patients suggest prenatal hormone influence on the disease.
5 citations
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September 2021 in “Journal of Molecular Histology” LHX2, with other markers, can identify hair placodes in rats.
January 2026 in “Contemporary Clinical Dentistry” VKHD can include rare oral symptoms like discolored teeth.
53 citations
,
May 2010 in “Journal of Cellular Physiology” Mice without Vitamin D receptors have hair growth problems because of issues in the hedgehog signaling pathway.
1 citations
,
September 2019 in “Steroids” Two new mutations in the AR gene linked to severe androgen insensitivity were found.
July 2024 in “Journal of Investigative Dermatology” A new test helps find drugs to treat head and neck cancer by targeting c-Rel.
76 citations
,
January 1998 in “Mammalian Genome” 694 citations
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April 2000 in “Nature genetics” Msx2 deficiency in mice leads to bone growth and organ development problems.
17 citations
,
November 2012 in “Journal of Investigative Dermatology” The document concludes that over 500 genes are linked to hair disorders and this knowledge is important for creating new treatments.
12 citations
,
December 2023 in “Plant Communications” ADF8 and ADF11 help root hairs grow longer at high pH.
3 citations
,
June 2022 in “European journal of human genetics” A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
January 2023 in “Indian Dermatology Online Journal” Uncombable hair syndrome is linked to Zellweger syndrome.
5 citations
,
January 2009 in “Dermato-endocrinology” ADAM 10 and ADAM 12 proteins are involved in different stages of hair growth and could be targets for treating hair disorders.
1 citations
,
May 2019 in “Journal of The European Academy of Dermatology and Venereology” New method, hair distribution width (HDW), improves accuracy in diagnosing androgenetic alopecia (AGA).
July 2024 in “Journal of Investigative Dermatology” CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.
January 2010 in “Acta Laboratorium Animalis Scientia Sinica” The UHS promoter is specific to mouse hair follicles.
2 citations
,
January 2013 in “Elsevier eBooks” The document explains the genetic causes and characteristics of inherited hair disorders.
7 citations
,
September 2013 in “Familial cancer” Birt–Hogg–Dubé syndrome is a rare genetic condition causing skin lesions, lung cysts, and a higher chance of kidney cancer.
15 citations
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October 2012 in “Journal of child neurology” The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
April 2019 in “Journal of the Endocrine Society” An over-the-counter vitamin/mineral supplement improved hair loss and blood sugar control in a woman with non-classic 11-hydroxylase deficiency.
20 citations
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May 2013 in “International Journal of Molecular Medicine” Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
1 citations
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September 2023 in “Acta dermato-venereologica” Certain genetic variants are linked to frontal fibrosing alopecia in Spanish patients.
January 2013 in “Kidney international” A man with kidney tumors and lung cysts was diagnosed with Birt–Hogg–Dubé syndrome and treated successfully, with genetic testing confirming the diagnosis.
3 citations
,
January 2008 in “Endocrine journal” A new mutation linked to partial Androgen Insensitivity Syndrome and prostate cancer was found in a patient unhappy with their female gender assignment.
7 citations
,
January 2013 in “Indian dermatology online journal” A rare skin condition with dark, thick, warty patches and some hair loss was found in a newborn boy.
50 citations
,
October 1986 in “European journal of pediatrics” A boy with severe Vitamin D-resistant rickets did not respond to treatment and lacked a common symptom, suggesting a need for alternative treatments.
8 citations
,
August 2022 in “BMC Veterinary Research” C57BL/6 mice and SD rats have different sweat gland and hair follicle patterns, useful for skin research.
January 2008 in “Memorial University Research Repository (Memorial University)” Pygopus 2 helps ovarian cancer cells grow by aiding ribosomal RNA production, independent of Wnt signaling.