January 2022 in “Acta dermatovenerologica Alpina, Pannonica et Adriatica (Tiskana izd.)” Uncombable hair syndrome causes frizzy hair and can affect the nervous system, eyes, and ears, often co-occurring with other hair, skin, nail, and teeth conditions, and is linked to three specific gene mutations.
4 citations
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August 2006 in “The Journal of Dermatology” HLA can be linked to autoimmune hepatitis.
1 citations
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June 2022 in “Tidsskrift for Den norske legeforening” A young boy's uncombable hair is due to a rare genetic condition that usually improves over time.
39 citations
,
March 2008 in “Journal of biological chemistry/The Journal of biological chemistry” GLI2 increases follistatin production in human skin cells.
6 citations
,
October 2023 in “Animal Biotechnology” A specific gene variation in goats is linked to better growth traits.
2 citations
,
August 2020 in “Scientific reports” Genes related to keratin, skin cell differentiation, and immune functions are key in hedgehog skin and spine development.
29 citations
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January 2003 in “KARGER eBooks” HVDRR is caused by VDR gene mutations, leading to vitamin D resistance, treatable with high calcium doses, but alopecia remains permanent.
79 citations
,
February 2009 in “Human Genetics”
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” MPZL3 is important for controlling the hair growth cycle in mice and humans.
6 citations
,
December 2023 in “Journal of Molecular Cell Biology” Removing Gsdma1/2/3 genes reduces skin cell overgrowth by blocking a specific cell pathway.
165 citations
,
December 2004 in “Differentiation” BMP signaling is crucial for skin and hair growth.
75 citations
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April 2000 in “Developmental Dynamics” Whn is essential for hair growth, and its malfunction causes hair loss.
January 2017 in “Elsevier eBooks” Congenital Adrenal Hyperplasia is mainly caused by enzyme deficiencies, leading to varying symptoms like hormone imbalances and physical changes.
29 citations
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June 2017 in “Journal of Inherited Metabolic Disease” High-content screening is useful for finding new treatments for rare diseases and has led to FDA-approved drugs.
1 citations
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June 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” GTL1 is needed to control root hair growth and prevent problems when there are too many nutrients.
60 citations
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September 2023 in “Science” BTNL proteins help control inflammatory bowel disease by maintaining specific immune cells.
60 citations
,
October 2020 in “Nature Communications” AP-1 and TGFß work together to drive resistance in basal cell carcinoma, suggesting new treatment options.
15 citations
,
June 2019 in “Biochemical Journal” A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.
178 citations
,
May 2006 in “Developmental Dynamics” Jumonji genes are important for development and their mutations can cause abnormalities, especially in the heart and brain.
179 citations
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June 2000 in “The American journal of pathology” The absence of functional sebaceous glands causes hair follicle destruction and scarring alopecia.
October 2024 in “Journal of the Endocrine Society” A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.
December 2025 in “International Journal of Dermatology” Björnstad syndrome can cause hair loss similar to androgenetic alopecia, and treatment with baricitinib and minoxidil may help.
51 citations
,
January 2007 in “Animal Genetics” The gene for slick hair in Senepol cattle is located on chromosome 20 and may involve the SRD5A2 gene.
7 citations
,
August 2008 in “Immunogenetics” A gene mutation in mice causes increased mast cells and disorganized hair follicles in their skin.
25 citations
,
August 2014 in “Endocrinology” Researchers created a mouse model of a type of rickets that does not cause hair loss.
40 citations
,
May 2005 in “Journal of Cell Science” Truncated LTBP-1 disrupts TGF-β signaling, affecting hair growth.
March 2024 in “Research Square (Research Square)” Sex steroids affect the MafB gene differently in male and female hamsters.
17 citations
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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.
July 2010 in “Journal of Investigative Dermatology” Scientists found gene mutations that affect hair loss, skin stem cells, and skin disorders, and identified drugs that may help treat blood vessel and skin conditions.
61 citations
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February 1997 in “Differentiation” Hair differentiation starts earlier than thought, involving multiple type-II keratins.