September 2022 in “Indian Journal of Paediatric Dermatology” Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.
32 citations
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November 2020 in “UNC Libraries” A point mutation in the androgen receptor gene causes complete androgen insensitivity.
August 2023 in “Frontiers in Endocrinology” Mutations in mitochondrial DNA might significantly contribute to the development of Polycystic Ovarian Syndrome.
May 2015 in “Journal of Dermatological Science” Researchers found a new area on chromosome 2 linked to a genetic hair loss condition.
December 2021 in “Molecular genetics and genomics” Cats with abnormal hair had DSG4 gene changes causing hair problems.
August 2020 in “Pakistan Journal of Zoology” A new mutation in the Hairless gene causes hair loss in two Pakistani families.
The scant hair in snthr-1Bao mice is likely caused by a deletion affecting the Plcd1 gene.
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.
60 citations
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March 2006 in “Journal of Medical Genetics” A mutation in the KRTHB5 gene causes hair and nail issues.
6 citations
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January 2004 in “DNA Research” A mutation in the Sgkl gene causes defective hair growth in mice.
April 2024 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” A new change in the WNT10A gene caused a condition leading to short hair growth in a Chinese family.
January 2024 in “Wiadomości Lekarskie” Low-penetration genes might help personalize colorectal cancer prevention.
28 citations
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December 1997 in “Journal of Biological Chemistry” A genetic mutation in the hHa1 gene creates a smaller, but still functional, hair protein without causing hair problems.
23 citations
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December 2013 in “British Journal of Dermatology” A new gene mutation linked to a skin condition was found in a Spanish family.
26 citations
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October 1998 in “Experimental Dermatology” A keratin hHb6 mutation causes a hair disorder with varying severity, influenced by other factors.
103 citations
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March 2015 in “Nature Communications” A genetic region near the PAX1 gene is linked to a higher risk of scoliosis in females.
66 citations
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January 2020 in “Acta Dermato Venereologica” New genetic variants linked to inherited ichthyoses were identified, offering insights for potential gene therapy.
January 2023 in “Indian dermatology online journal” A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific mutation in the TRPV3 gene causes hair follicle cells to develop improperly, leading to hair loss.
2 citations
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July 2022 in “Journal of the Endocrine Society” Some women with PCOS have rare genetic variants linked to the condition.
3 citations
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April 2012 in “Bioinformation” Two specific SNPs in the TRPS1 gene cause excessive hair growth by altering the protein's structure.
1 citations
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May 2011 in “DOAJ (DOAJ: Directory of Open Access Journals)” The study found genetic diversity in coat color dilution among Czech pointers in Slovakia.
55 citations
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November 2010 in “Journal of Allergy and Clinical Immunology” The L412F variant of TLR3 is linked to skin infections, more viral infections, and autoimmune issues.
37 citations
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August 2011 in “Journal of Bone and Mineral Research” A girl had rickets due to a gene mutation affecting vitamin D response.
3 citations
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May 2024 in “BMC Medical Genomics” A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.
195 citations
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June 2005 in “American Journal of Human Genetics” Genetic variation in the androgen receptor gene mainly causes early-onset hair loss, with maternal inheritance playing a key role.
23 citations
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July 2003 in “Journal of Investigative Dermatology” Genetic testing for hairless gene mutations is crucial to correctly diagnose and treat atrichia with papular lesions.
3 citations
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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.
April 2023 in “Journal of Investigative Dermatology” Mutations in the SHH pathway in certain skin cells can cause skin tumors and abnormal hair growth.
The curly mutation in SELH/Bc mice affects hair and may help study human genetic disorders.