47 citations
,
September 2002 in “Journal of Bone and Mineral Research” A mutation in the vitamin D receptor causes severe resistance to vitamin D, affecting bone health but not hair growth.
March 2023 in “Journal of Cosmetic Dermatology” A genetic variant linked to hair thinning in Japanese women was found.
2 citations
,
September 2024 in “Asian Journal of Andrology” New SRD5A2 variants may disrupt protein function, aiding diagnosis and treatment of related disorders.
January 2025 in “Dermatology Reports” Early and accurate diagnosis is crucial for managing rare genetic disorders like this localized variant of junctional epidermolysis bullosa.
4 citations
,
March 2000 in “Journal of Investigative Dermatology” The gene for Marie Unna hereditary hypotrichosis is located on chromosome 8p21, near the hairless gene.
November 2024 in “Rheumatology Advances in Practice” Visceral leishmaniasis can mimic rheumatoid arthritis symptoms, especially in immunocompromised patients.
February 2024 in “Zagazig University Medical Journal” TCF7L2 gene polymorphism is linked to alopecia areata, but it doesn't affect the success of PRP or conventional treatments.
May 2017 in “Journal of The American Academy of Dermatology” PLAU and SerpinB2 affect cell death differently in various forms of leprosy and could be targets for new treatments.
2 citations
,
July 2013 in “Journal of Life Sciences” A 2-year-old girl with a rare vitamin D disorder had rickets and hair loss, but treatment was ineffective due to poor compliance.
6 citations
,
November 2021 in “Oncology Research and Treatment” Low Vitamin D receptor levels in breast cancer are linked to worse outcomes and more bone metastases, and could be a marker for prognosis.
3 citations
,
July 2024 in “Frontiers in Medicine” Mutations in the KLHL24 gene cause a skin disorder in some Russian families.
23 citations
,
January 2009 in “Veterinary Dermatology” The hepatitis B vaccine did not cause hair loss in the tested mice.
January 2025 in “Repository of Digital Objects for Teaching Research and Culture (University of Valencia)” Non-coding RNAs may be key in diagnosing and treating rare skin disorders.
20 citations
,
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.
38 citations
,
January 2016 in “Cell Death and Disease” The TCL1 transgenic mouse model is useful for understanding human B-cell leukemia and testing new treatments.
The trichohyalin gene is located at chromosomal region 1q21 with other skin-related protein genes.
April 2018 in “Journal of Investigative Dermatology” High amphiregulin in the skin is a bad sign for acute graft-versus-host disease.
11 citations
,
October 2001 in “Dermatologic Clinics” The document concludes that DAB389-IL2 is promising for treating refractory cutaneous T-cell lymphoma, but more research is needed on its effectiveness and side effect management.
11 citations
,
September 2010 in “American Journal of Medical Genetics - Part A” A Turkish family with sparse hair and eyebrow loss has a mutation in the U2HR gene linked to Marie Unna hereditary hypotrichosis.
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.
35 citations
,
April 2008 in “Journal of Biological Chemistry” Hirosaki hairless rats lack hair due to missing DNA with key keratin genes.
5 citations
,
January 2022 in “Asian Pacific Journal of Cancer Prevention” Certain VDR gene changes can affect melanoma risk.
February 2023 in “Journal of dermatology” The first Japanese case of a genetic hair disorder caused by specific mutations in the LIPH gene was identified.
71 citations
,
May 2019 in “Rheumatology” Tph cells are linked to the severity of systemic lupus erythematosus.
9 citations
,
March 2018 in “European journal of dermatology/EJD. European journal of dermatology” A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
3 citations
,
September 2013 in “Journal of the American Academy of Dermatology” A new genetic mutation linked to Hutchinson-Gilford progeria syndrome was found in China.
18 citations
,
November 2009 in “Calcified tissue international” A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.
4 citations
,
December 2021 in “Journal of clinical laboratory analysis” A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.
November 2025 in “Clinical Cosmetic and Investigational Dermatology” LIPH mutations cause woolly hair in some Chinese people.
47 citations
,
April 2000 in “Experimental Dermatology” A new gene mutation causes a rare type of hair loss.