July 2023 in “Journal of Biomedical Science” Different people show different symptoms for genetic diseases because of how sensitive their bodies are to small changes in important factors.
54 citations
,
February 2002 in “Carcinogenesis” Increasing SSAT makes skin more prone to cancer.
10 citations
,
July 2001 in “PubMed” A new type of pachyonychia congenita may exist, caused by a different keratin mutation.
1 citations
,
September 2023 in “Frontiers in Genetics” A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.
March 2003 in “中華皮膚科醫學雜誌” Trichothiodystrophy causes unusual hair and developmental issues.
99 citations
,
August 2009 in “Nature Genetics” Removing both Atr and Trp53 genes in adult mice causes severe tissue damage and death due to DNA damage.
A new genetic mutation was found causing hair and eye issues in a boy.
August 2020 in “International Journal of Research in Dermatology” Clouston's syndrome is a rare disorder affecting nails, hair, teeth, and skin, caused by a gene mutation, and currently has no treatment, only supportive care.
9 citations
,
January 2014 in “Molecular Genetics and Metabolism Reports” The rhg mutation in mice affects the Oat gene, causing hair growth issues and other symptoms.
7 citations
,
May 2021 in “Animal Genetics” The CORIN gene variant causes the golden color in Siberian cats.
20 citations
,
October 2005 in “Archives of Dermatological Research” 54 citations
,
November 1994 in “Differentiation” Trichohyalin is found in non-hair tissues and works with filaggrin in certain skin areas and conditions.
December 2013 in “Appetite” A defective gene causes hair loss and taste insensitivity in BTBR mice.
2 citations
,
January 2008 in “Oxford University Research Archive (ORA) (University of Oxford)”
14 citations
,
July 2001 in “American Journal of Human Genetics” Haplogroup X found in Altaian population supports Amerindian origin.
1 citations
,
January 2008 7 citations
,
April 2019 in “Animal biotechnology” The POMP gene is active in various goat tissues and affects hair growth, with certain treatments influencing its expression.
52 citations
,
November 2003 in “Journal of Investigative Dermatology” Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
5 citations
,
September 2013 119 citations
,
November 2016 in “American journal of human genetics” Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.
88 citations
,
June 2000 in “Journal of Investigative Dermatology” Keratin 17 is important for hair and nail structure and affects pachyonychia congenita symptoms.
7 citations
,
October 2019 in “Clinical, Cosmetic and Investigational Dermatology” Certain gene variations in the Vitamin D receptor may increase the risk of chronic hair loss.
7 citations
,
July 2020 in “Immunological Investigations” The rs231775 genetic variant is linked to a higher risk and severity of Alopecia Areata in males.
1 citations
,
January 1971 in “Acta dermato-venereologica” Mice hair follicles take in the amino acid cystine.
August 2023 in “Acta Scientific Paediatrics” A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.
28 citations
,
February 2010 in “British journal of dermatology/British journal of dermatology, Supplement” WNT10A mutations cause varied symptoms in patients with odonto-onycho-dermal dysplasia.
The mutation helps mice handle heat better without affecting hair growth.
2 citations
,
January 1993 Trichohyalin is a versatile protein involved in hair and skin structure.
1 citations
,
September 2024 in “Animals” Specific gene variants affect wool traits in Chinese Tan sheep.
34 citations
,
September 2010 in “Clinical and Experimental Dermatology” A new gene mutation linked to KID syndrome was found, expanding genetic knowledge.