A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.
March 2026 in “World Rabbit Science” DKK4 can be used to improve wool quality in Zhexi Angora rabbits.
1 citations
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January 2023 in “Frontiers in genetics” Certain genetic markers linked to wool quality in Rambouillet sheep were identified, which can guide better breeding choices.
25 citations
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May 2016 in “Progress in Biophysics & Molecular Biology” R-spondins and their receptors help increase bone growth and may be used to treat bone loss diseases.
13 citations
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June 2024 in “Frontiers in Genetics” About 50% of 46, XY DSD cases lack a genetic diagnosis, but advanced sequencing methods improve detection.
3 citations
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March 2010 in “Dermatologica Sinica” A Taiwanese patient had hair loss and skin bumps without the usual gene mutation, suggesting other genetic factors might be involved.
9 citations
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February 2022 in “Nature communications” Rare changes in the KRT82 gene are linked to a higher risk of Alopecia Areata.
2 citations
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April 2008 in “PubMed” A gene mutation causes monilethrix in a Chinese family.
July 2024 in “Journal of Investigative Dermatology” A new test helps find drugs to treat head and neck cancer by targeting c-Rel.
February 2026 in “Frontiers in Medicine” Personalized sonidegib dosing can effectively treat Gorlin-Goltz syndrome with fewer side effects.
January 2002 in “Agritrop (Cirad)” The hr gene is linked to hair loss in Valle del Belice sheep.
October 2024 in “Journal of the Endocrine Society” Ayme-Gripp Syndrome was confirmed in a woman through genetic testing, highlighting the need to consider rare genetic conditions in diagnoses.
2 citations
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September 2017 in “Journal of Investigative Dermatology” Notch1 signaling is impaired in hidradenitis suppurativa, affecting skin and hair cells.
71 citations
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February 2012 in “The American Journal of Human Genetics” A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.
188 citations
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June 1998 in “Molecular cell” Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
January 2024 in “Authorea (Authorea)” STK11 gene polymorphism does not predict metformin response in PCOS.
December 2025 in “International Journal of Surgery” GBP1 is a key target for treating Epstein-Barr virus-related kidney cancer, and finasteride may help.
66 citations
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December 1999 in “Journal of Investigative Dermatology” New mutations in the hairless gene may cause hair loss and affect bone development.
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.
32 citations
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May 1999 in “Biochemical and Biophysical Research Communications” A new enzyme, BSSP, is found in high amounts in the hair follicles of nude mice.
4 citations
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October 2021 in “Journal of Clinical Medicine” Carriers of a specific gene mutation have subtle skin changes without visible symptoms.
24 citations
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November 2008 in “Arquivos Brasileiros de Endocrinologia & Metabologia” Four patients with a type of rickets and hair loss had different mutations in their vitamin D receptor gene, causing it to not work properly.
3 citations
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January 2025 in “Animal Genetics” Variants on chromosome 10 affect hair thickness in Dazu black goats.
3 citations
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October 2024 in “Experimental Dermatology” Higher CRHR1 levels in AA patients lead to increased inflammation.
5 citations
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May 2011 in “European Journal of Medical Genetics” A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.
10 citations
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September 2004 in “PubMed” Vitamin D receptor FokI gene variation is not linked to alopecia areata.
6 citations
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January 2004 in “DNA Research” A mutation in the Sgkl gene causes defective hair growth in mice.
September 2016 in “Journal of Dermatological Science” A gene mutation worsens skin irritation in mice due to a lack of certain fats.
1 citations
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August 2024 in “Animals” KRT85 gene variations can help improve wool traits in sheep through selective breeding.
78 citations
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May 2012 in “Journal of Investigative Dermatology” A specific gene mutation causes woolly hair and hair loss.