41 citations
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October 2001 in “Experimental Dermatology” The nude gene is important for skin and hair development.
27 citations
,
June 2020 in “Genes” Lykoi cats' unique sparse hair is linked to specific genetic variants in the Hairless gene.
27 citations
,
January 2000 in “Developmental Dynamics” Mutations in the Whn gene affect hair keratin gene expression differently.
11 citations
,
October 2007 in “Journal of Investigative Dermatology” Mutations in the Sgk3 gene cause fuzzy hair in mice.
10 citations
,
April 2013 in “Journal of Investigative Dermatology” Epidermolytic ichthyosis can be inherited in a semidominant way with mild symptoms in carriers.
May 2026 in “Science Advances” Caloric stress and differentiation increase IRES translation, affecting stem cell function and potential therapies.
Pvalb8 is essential for zebrafish hearing and hair cell development, and its mutation causes hearing loss.
March 2025 in “American Journal of Medical Genetics Part A” A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.
FGF5 spliceosomes inhibit rabbit hair growth by affecting gene expression.
Hidradenitis Suppurativa has genetic links, with certain gene mutations more common in patients and a third of cases having a family history.
10 citations
,
March 2024 in “Endocrine Reviews” Significant progress was made in understanding androgen excess disorders, but much is still unknown.
June 2024 in “The American journal of psychiatry” Schizophrenia risk genes may affect early brain development, contributing to the disease.
695 citations
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October 2011 in “Cell stem cell” Low oxygen areas help maintain and protect blood stem cells by using a simple sugar breakdown process for energy and managing their activity levels.
489 citations
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November 2021 in “Signal Transduction and Targeted Therapy” The JAK/STAT pathway is important in cell processes and disease, and JAK inhibitors are promising for treating related conditions.
450 citations
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January 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” Hair color is determined by melanin produced and transferred in hair follicles.
344 citations
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May 2018 in “EMBO journal” Phosphorylation controls TFEB's location in the cell, affecting cell metabolism and stress response.
166 citations
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November 2008 in “Expert Review of Endocrinology & Metabolism” Biotin and biotinidase are essential to prevent health issues, and deficiencies require lifelong supplementation.
122 citations
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April 2020 in “American Journal Of Pathology” Skin aging is a complex process influenced by various factors, leading to wrinkles and sagging, and should be considered a disease due to its health impacts.
85 citations
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March 2008 in “Journal of Cell Science” The mutation causing Hutchinson-Gilford progeria syndrome leads to severe skin problems and early death in mice.
81 citations
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March 2006 in “Journal of Investigative Dermatology” Mutations in the DSG4 gene cause specific hair and scalp issues.
78 citations
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May 2012 in “Journal of Investigative Dermatology” A specific gene mutation causes woolly hair and hair loss.
48 citations
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September 2020 in “Frontiers in Immunology” Loss of OGG1 increases skin inflammation and auto-antibodies in lupus.
46 citations
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May 2013 in “The journal of investigative dermatology/Journal of investigative dermatology” Significant progress was made in understanding PXE, but effective treatments are still needed.
46 citations
,
August 2006 in “Mechanisms of Development” Runx1 is crucial for proper hair structure and development.
38 citations
,
January 2017 in “PPAR Research” PPAR-γ helps control skin oil glands and inflammation, and its disruption can cause hair loss diseases.
37 citations
,
November 2017 in “Medical Sciences” Melanoma's complexity requires personalized treatments due to key genetic mutations and tumor-initiating cells.
29 citations
,
April 2000 in “Journal of histochemistry and cytochemistry/The journal of histochemistry and cytochemistry” ICAM-1 helps regulate hair growth cycles and skin remodeling.
26 citations
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July 2020 in “Fertility and Sterility” Male infertility and genitourinary birth defects are often linked to genetic issues.
25 citations
,
June 2017 in “Journal of Investigative Dermatology” HPV8 causes skin cancer by expanding specific skin stem cells.
24 citations
,
September 2023 in “Science Advances” Mettl3 is essential for normal tissue development and self-renewal by regulating gene expression.