47 citations
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December 2019 in “Frontiers in immunology” A new mutation in the STING protein causes a range of symptoms and its severity may be affected by other genetic variations; treatment with a specific inhibitor showed improvement in one patient.
197 citations
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June 2009 in “American journal of human genetics” WNT10A mutations often cause ectodermal dysplasias, with males showing more tooth issues than females.
2 citations
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June 2021 in “Research Square (Research Square)” A new gene mutation causes long hair in some Maine Coon cats.
25 citations
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March 2007 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific gene mutation causes varying hair loss severity in a Pakistani family.
8 citations
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May 2017 in “IUBMB life” Astrotactin proteins are important for brain and skin development and are linked to several neurodevelopmental disorders.
199 citations
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April 2010 in “Nature” A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.
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.
The scant hair in snthr-1Bao mice is likely caused by a deletion affecting the Plcd1 gene.
9 citations
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June 2017 in “American journal of ophthalmology. Case reports” A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
48 citations
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March 2003 in “International Journal of Cancer” DMBT1 and galectin-3 may help suppress epithelial skin cancer.
September 2024 in “Egyptian Journal of Medical Human Genetics” Consider NF1 in newborns with rare congenital anomalies.
181 citations
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January 2009 in “Nature Genetics” Certain mutations in a hair growth-related gene cause a type of genetic hair loss.
45 citations
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July 2009 in “Journal of human genetics” A gene variation is linked to hair thickness in Asians.
1 citations
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July 2024 in “International Journal of Molecular Sciences” MicroRNA-181a slows sheep hair growth by targeting GNAI2 and affecting a key growth pathway.
34 citations
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January 2004 in “PubMed” DHT deficiency in rats reduces sperm content and affects testis structure over time.
April 2007 in “Linchuang pifuke zazhi” TGF-β1 and 2 may play a role in hair loss in AGA.
28 citations
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November 2018 in “American Journal of Medical Genetics Part A” ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
4 citations
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January 2009 in “PubMed” A mutation in the KRT86 gene causes hair fragility in a Turkish family.
January 2004 in “Linchuang pifuke zazhi” α- and γ-catenins help develop fetal skin by 23 weeks.
MFN2 mutations cause mitochondrial problems, leading to more upper body fat and lower leptin levels.
19 citations
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November 1993 in “Mammalian Genome” A gene mutation in mice causes permanent hair loss and skin issues.
10 citations
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March 2019 in “Human Genetics” A genetic mutation in the SGK3 gene causes hairlessness in Scottish Deerhounds and may relate to human hair loss.
29 citations
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July 2014 in “PLoS ONE” Inactivating β-catenin is essential for chick retina regeneration.
97 citations
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March 2006 in “Journal of Investigative Dermatology” Mutations in the DSG4 gene cause a severe form of brittle hair and skin issues.
During late pregnancy in rats, hormonal changes increased certain GABAA receptors in specific brain cells.
14 citations
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January 2013 in “Hormone and Metabolic Research” The severity of symptoms in nonclassical congenital adrenal hyperplasia is not determined by CYP21A2 gene variations.
9 citations
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November 2019 in “Cell calcium” The STIM1 R304W mutation in mice leads to bone changes and teeth hair growth.
August 2024 in “OSMANGAZİ JOURNAL OF MEDICINE” The visfatin GT genotype may increase the risk of Alopecia Areata.
August 2022 in “IntechOpen eBooks” Congenital Adrenal Hyperplasia is a rare inherited disease causing hormone imbalances, affecting growth, fertility, and heart health, diagnosed through blood tests and treated with medication and lifestyle changes.
70 citations
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April 2014 in “Annales d'endocrinologie” New genes and pathways are important for testosterone production and male sexual development.