40 citations
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September 2010 in “Journal of Biological Chemistry” Keratin K80 is an ancient protein found in various tissues, important for cell structure and tissue differentiation.
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.
151 citations
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June 2010 in “Endocrinology and metabolism clinics of North America” Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.
132 citations
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February 2002 in “Journal of Biological Chemistry” HOXC13 is crucial for regulating hair keratin genes in hair follicles.
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.
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September 2016 in “Aging Cell” Low selenium levels can extend lifespan but worsen health issues.
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June 2022 in “Developmental cell” Overactivating Hedgehog signaling makes hair follicle cells in mice grow hair faster and create more follicles.
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May 2021 in “Journal of Cell Science” N1-acetylspermidine promotes hair follicle stem cell self-renewal.
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March 2015 in “PloS one” Scientists restored fertility in male mice lacking a key fertility gene by using a modified gene.
14 citations
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March 2016 in “Mechanisms of Development” Basonuclin 2 is vital for the development of facial bones, hair follicles, and male germ cells in adult mice, and its absence can lead to dwarfism and abnormal follicles.
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September 2021 in “American Journal of Medical Genetics Part A” Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
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August 2024 in “BMC Ophthalmology” New genetic variants linked to albinism were found in Pakistani families.
January 2026 in “Burns & Trauma” RNA modifications help heal wounds and could lead to new treatments.
July 2025 in “Frontiers in Medicine” Mutations in the LIPH gene cause woolly hair in a child.
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
A new AIRE gene mutation causes rare autoimmune symptoms in a Lebanese boy.
128 citations
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January 2023 in “Frontiers in Endocrinology” Individualized treatment and support can help most couples with recurrent implantation failure achieve pregnancy.
41 citations
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October 2001 in “Experimental Dermatology” The nude gene is important for skin and hair development.
July 2025 in “Human Genomics” New LSS gene variants help understand congenital hypotrichosis 14 better.
May 2026 in “Zenodo (CERN European Organization for Nuclear Research)” Natural oil with herbs can reduce hair fall and improve hair health.
May 2026 in “Zenodo (CERN European Organization for Nuclear Research)” Natural oil with herbs can reduce hair fall and improve hair health.
November 2025 in “Zenodo (CERN European Organization for Nuclear Research)” Identifying and treating deficiencies and conditions can stop or reverse premature greying in children.
November 2025 in “Zenodo (CERN European Organization for Nuclear Research)” Identifying and treating deficiencies and conditions can stop or reverse premature greying in children.
November 2025 in “World Journal of Biology Pharmacy and Health Sciences” Premature greying in kids can signal health issues like vitamin deficiencies or thyroid problems, which can be treated.
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December 2016 in “The EMBO Journal” Gata6 is important for protecting hair growth cells from DNA damage and keeping normal hair growth.
127 citations
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December 2005 in “Experimental Dermatology” Stress can stop hair growth in mice, and treatments can reverse this effect.
November 2022 in “Journal of Investigative Dermatology” Activating a bitter taste receptor in hair follicles can stop hair growth by increasing a specific growth factor.
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July 1989 in “Journal of Cell Science” Rat hair follicles can be kept alive in a lab for 7 days but then stop growing.
September 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Changing the structure of the hair follicle's environment can affect hair quality but doesn't stop hair growth.
June 2020 in “Annals of the Rheumatic Diseases” Patients need better information about the risks of long-term steroid use.