Mdm2 is crucial for controlling p53 to maintain healthy cells and prevent tumors.
February 2026 in “Orphanet Journal of Rare Diseases” Most genetic mutations causing hypohidrotic ectodermal dysplasia in Russian patients are found in the EDA gene.
January 2017 in “Murdoch Research Repository (Murdoch University)” A new genetic variant in the EEF2K gene may contribute to polycystic ovary syndrome.
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January 2021 in “Translational Psychiatry” The research suggests that Tourette syndrome is linked to both brain signaling and immune system pathways.
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June 2000 in “Development” Notch pathway activation causes abnormal hair layer development.
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April 2008 in “Journal of Investigative Dermatology” EDA2R gene linked to hair loss.
ARHGEF3 is essential for proper hair follicle development.
Fgf20 is crucial for hair follicle formation by influencing cell movement and growth.
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July 1996 in “Journal of Cutaneous Medicine and Surgery” TTD patients don't have a higher skin cancer risk because their main issue is with transcription, not DNA repair.
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July 1996 in “Journal of Investigative Dermatology” 58 citations
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July 2005 in “Molecular and Cellular Biology” A specific gene segment can make mouse skin cells glow, helping study hair growth and gene effects.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” Stress in hair follicle cells increases certain immune-related proteins, which might contribute to hair loss conditions.
5 citations
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September 2012 in “Journal of Investigative Dermatology” Scientists can mimic hair disorders by altering genes in lab-grown human hair follicles, but these follicles lack some features of natural ones.
February 2009 in “Journal of The American Academy of Dermatology” The document concludes that detailed clinical descriptions of seven family cases help understand dominant dystrophic epidermolysis bullosa's symptoms and inheritance.
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November 2024 in “PLoS ONE” Genomic prediction can improve breeding strategies for Korean Sapsaree dogs.
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February 2013 in “Developmental dynamics” Foxi3 expression in developing teeth and hair is controlled by the ectodysplasin pathway.
A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.
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October 1988 in “Clinics in Dermatology” Scientists identified and cloned specific keratin proteins in mouse hair.
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April 2019 in “Gynecological Endocrinology” Certain gene variations are found in people with polycystic ovary syndrome.
Dupilumab helped improve skin and prevent new lesions in a child with a rare immune disorder and severe eczema.
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December 1977 in “Virchows Archiv B Cell Pathology”
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February 2020 in “The journal of gene medicine” A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.
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October 2006 in “Archives of Biochemistry and Biophysics” A unique gene mutation causes vitamin D-resistant rickets without causing hair loss.
July 2025 in “Journal of Investigative Dermatology” Hhip-Cre effectively targets dermal papilla cells for gene manipulation in hair biology.
78 citations
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August 2012 in “Human molecular genetics online/Human molecular genetics” A new gene, JMJD1C, may affect testosterone levels in men.
December 2023 in “The journal of cell biology/The Journal of cell biology” The mTurq2-Col4a1 mouse model shows how the basement membrane develops in live mammals.
April 2017 in “Journal of Investigative Dermatology” Deep phenotyping helps distinguish between xeroderma pigmentosum and trichothiodystrophy, aiding in diagnosis and treatment.
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March 2011 in “Endocrine” A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.
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April 2018 in “EMBO journal” The protein SLC1A3 is important for activating skin stem cells and is necessary for normal hair and skin growth in mice.
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December 2003 in “Journal of Investigative Dermatology” DS cells in hair follicles can help form and restore hair, especially in hair loss conditions.