12 citations
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March 2012 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” A specific gene mutation in Japanese people can cause varying degrees of hair thinning in adulthood.
21 citations
,
March 2015 in “Neurological Sciences” A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.
7 citations
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June 2011 in “Movement Disorders” A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
14 citations
,
May 2019 in “Human gene therapy” MC-DNA vector-based gene therapy can temporarily treat CBS deficiency in mice.
5 citations
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June 2020 in “Medicine” A patient with a rare disease had a unique genetic mutation linked to their symptoms.
November 2012 in “Experimental and Clinical Endocrinology & Diabetes” A new genetic mutation causes severe Leydig cell hypoplasia, affecting sexual development.
3 citations
,
January 2021 in “Molecular genetics & genomic medicine” The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
7 citations
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January 2015 in “Dermatology” Two gene variations, rs6493497 and rs7176005, may be linked to female hair loss in Chinese people.
2 citations
,
October 1990 in “The Lancet” Some people have a genetic variation that makes them less effective at breaking down drugs.
5 citations
,
September 2013 in “The Journal of Dermatology” Researchers found a new mutation in the HR gene causing hair loss and skin bumps in a Pakistani family.
The number of CAG repeats in the androgen receptor gene doesn't significantly affect female pattern hair loss in the Han Chinese population.
2 citations
,
January 2022 in “The Application of Clinical Genetics” A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
9 citations
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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.
6 citations
,
May 2012 in “Archives of Dermatological Research” A new mutation in the HR gene is linked to a rare form of hair loss with limb deformities.
June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” A mutation in the KRT82 gene is significantly associated with Alopecia Areata.
4 citations
,
January 2017 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.
47 citations
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April 2000 in “Experimental Dermatology” A new gene mutation causes a rare type of hair loss.
18 citations
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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.
232 citations
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July 1995 in “Nature Genetics” A genetic mutation in the CDH3 gene causes hair loss and vision problems in a young Saudi girl.
9 citations
,
February 2018 in “The Journal of Dermatology” A new mutation in the LIPH gene was found to cause a rare hair disorder in a Japanese boy.
November 2024 in “Journal of Investigative Dermatology” Genetic changes in specific proteins contribute to hair loss in some women of African descent.
10 citations
,
November 2018 in “Genetics in medicine” Lack of cystatin M/E causes thin hair and dry skin.
December 2024 in “Kırıkkale Üniversitesi Tıp Fakültesi Dergisi” Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.
8 citations
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July 2015 in “International Journal of Dermatology” A new DSG4 gene mutation causes hair defects in a young girl.
22 citations
,
February 2012 in “Journal of Investigative Dermatology” A specific gene mutation causes severe skin and nail issues and hair loss.
January 2023 in “Indian dermatology online journal” A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.
26 citations
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October 2002 in “Journal of Investigative Dermatology” A specific gene mutation causes congenital hair loss.
January 2010 in “Chinese Journal of Dermatovenereology of Integrated Traditional and Western Medicine” A unique gene mutation was found in a family with monilethrix.
23 citations
,
December 2013 in “British Journal of Dermatology” A new gene mutation linked to a skin condition was found in a Spanish family.