June 2023 in “GSC Advanced Research and Reviews” Hutchinson-Gilford Progeria Syndrome causes rapid aging from a genetic mutation, with no cure but ongoing research into potential treatments.
35 citations
,
September 1994 in “Journal of Investigative Dermatology”
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” The STRIPAK complex is crucial for skin cell organization and creating a functional skin barrier.
25 citations
,
April 2015 in “Journal of Investigative Dermatology” GasderminA3 is important for normal hair cycle transitions by controlling Wnt signaling.
12 citations
,
May 2013 in “International Journal of Molecular Sciences” Stem cells from elderly skin can become neurons, offering potential for brain therapy.
January 2025 in “eScholarship@McGill (McGill)” Jag2 is essential for proper skin cell differentiation and organization.
4 citations
,
May 2020 in “The journal of pediatrics/The Journal of pediatrics” A boy with monilethrix has brittle hair that breaks easily due to a genetic condition, which might improve by puberty.
5 citations
,
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.
9 citations
,
April 2018 in “Canadian Journal of Animal Science” LEF-1 boosts cell growth in goat hair follicles, aiding cashmere production.
6 citations
,
December 2004 in “Anais Brasileiros de Dermatologia” Some family members had a condition with both loose hair and unique eye changes, possibly indicating a new type of ectodermal dysplasia.
1 citations
,
April 2024 in “Animal Genetics” A genetic defect in an Appenzeller Mountain Dog caused skin issues, improved with ketoconazole, showing the importance of advanced genetic testing.
113 citations
,
June 2010 in “Biological Chemistry” Cathepsin L deficiency causes large, abnormal cell structures and health issues in mice.
17 citations
,
August 2018 in “BMC Genomics” The HOXC13 gene affects different hair proteins in cashmere goats in varied ways and is controlled by a feedback loop and other factors.
10 citations
,
January 1987 in “PubMed” Thyroid hormone and epidermal growth factor affect hair angle, tooth eruption, and ear development in rats.
34 citations
,
August 2019 in “Journal of Allergy and Clinical Immunology” mTORC2 is crucial for healthy skin barrier by regulating lipids and filaggrin.
January 2012 in “Heilongjiang xumu shouyi” EGF and KGF affect wool fineness in Gansu alpine Merino sheep.
44 citations
,
June 2023 in “Cell Reports” IL-1 promotes fat cell growth in skin, while WNT inhibits it and encourages scar formation.
94 citations
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October 1994 in “The Journal of Cell Biology” Too much keratin 16 in mice skin causes abnormal skin thickening and structure.
9 citations
,
June 2020 in “JAAD Case Reports” Dissecting cellulitis may have genetic links and can cause permanent hair loss.
22 citations
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June 2020 in “iScience” Sox21 is crucial for tooth development and enamel formation by preventing cells from changing into a different type.
79 citations
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March 2005 in “Journal of Medical Genetics” A mutation in the hHb3 gene is linked to the hair disorder monilethrix.
30 citations
,
January 1999 in “Journal of Cutaneous Pathology” Spiny keratoderma may be ectopic hair formation on palms and soles.
15 citations
,
August 2019 in “F1000Research” CMG2 and TEM8 receptors have distinct roles in skin and growth disorders, affecting collagen breakdown and growth.
1 citations
,
April 2023 in “Animals” Deleting the EDAR gene in Cashmere goats affects genes and proteins related to hair growth.
2 citations
,
May 2023 in “Journal of Advanced Research” Two mutations in KRT74 and EDAR genes cause sheep to have finer wool.
11 citations
,
January 2012 in “Journal of cell science” Rac1 is essential for proper hair structure and color.
22 citations
,
December 2013 in “Molecular biology of the cell” ILK is essential for proper hair follicle development and structure.
December 2023 in “The Sri Lanka Journal of Dermatology” A 12-year-old girl's hair loss was linked to a rare genetic condition called ALX4-related frontonasal dysplasia.
11 citations
,
January 2022 in “Experimental Dermatology” Severe CCCA may be biologically and clinically different from milder forms.
1 citations
,
September 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” MicroRNA-148a is crucial for maintaining healthy skin and hair growth by affecting stem cell functions.