75 citations
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October 2010 in “Mammalian genome” Sphynx cats are hairless and Devon Rex cats have curly hair due to specific genetic mutations.
73 citations
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June 2010 in “PLoS Genetics” A gene mutation in mice causes hair loss, weak bones, and protein buildup, showing how protein processing issues can lead to diseases.
14 citations
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September 1999 in “Mammalian genome” The scraggly mutation causes hair loss and skin defects in mice.
November 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Ezh2 controls skin development by balancing signals for dermal and epidermal growth.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” The research identified specific genes that are active in the cells crucial for hair growth.
8 citations
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May 2019 in “Journal of dermatological treatment” Vismodegib is effective for basal cell carcinoma but has severe side effects.
January 2025 in “Case Reports in Genetics” A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
May 2009 in “OPAL (Open@LaTrobe) (La Trobe University)” Suppressing the HGPS mutation may improve symptoms and suggest reversibility.
Par3–mInsc and Gαi3 work together to ensure proper cell division orientation in skin development.
124 citations
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November 2000 in “The journal of investigative dermatology/Journal of investigative dermatology” PAD3 plays a key role in hair and skin protein structure and may be linked to skin diseases.
January 2026 in “Figshare” January 2026 in “Figshare” 13 citations
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February 2016 in “Journal of steroid biochemistry and molecular biology/The Journal of steroid biochemistry and molecular biology” Mice without active or present vitamin D receptors maintain normal blood sugar control and islet gene expression when calcium levels are normal.
64 citations
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February 2008 in “Cancer Research” Inactivating both p53 and Rb genes in mice speeds up aggressive skin cancer development.
June 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” KIF18B is important for correctly positioning cell division machinery in skin cells, affecting hair follicle development.
Mutations in the PADI3 gene may cause central centrifugal cicatricial alopecia in women of African ancestry.
September 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” Researchers created an efficient method to extract DNA from marmoset hair, reducing blood chimerism.
September 2022 in “Research Square (Research Square)” Increasing Rps14 helps grow more inner ear cells and repair hearing cells in baby mice.
April 2017 in “Journal of Investigative Dermatology” Scientists can control how skin stem cells divide by using different treatments.
May 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” The study found that certain genes are important for hedgehog skin appendage development and immunity, with spines possibly evolving for protection and infection resistance.
9 citations
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February 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” The document concludes that the human keratin gene cluster is complex, with a need for updated naming to reflect over 50 functional genes important for hair and skin biology.
1 citations
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October 2021 in “Journal of Investigative Dermatology” December 2015 in “OPAL (Open@LaTrobe) (La Trobe University)” QLT0267 stops hair follicle cell growth and movement.
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.
January 2026 in “International Journal of Biological Macromolecules” 107 citations
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March 2014 in “BoneKEy Reports” Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
January 2023 in “Methods in molecular biology” ROP GTPase helps control the growth of pollen tubes and root hairs by managing cell structure and movement.
January 2007 in “Edward Elgar eBooks” TSPO might help treat anxiety and depression.
21 citations
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November 2017 in “Livestock science” Nellore cattle have genetic variations linked to their adaptation to tropical environments.