11 citations
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September 2011 in “British Journal of Dermatology” New ABCA12 gene mutations were linked to a skin condition with scaling and hair loss, and a treatment helped with hair loss in a related case.
April 2023 in “Journal of Investigative Dermatology” Mutations in the SHH pathway in certain skin cells can cause skin tumors and abnormal hair growth.
72 citations
,
July 2012 in “Journal of Investigative Dermatology” Mice lacking a key DNA methylation enzyme in skin cells have a lower chance of activating stem cells necessary for hair growth, leading to progressive hair loss.
February 2025 in “bioRxiv (Cold Spring Harbor Laboratory)” Hair follicles protect melanocytes from sun damage, helping them replenish skin.
January 2011 in “Revista Portuguesa de Endocrinologia Diabetes e Metabolismo” Congenital adrenal hyperplasia may be linked to adrenal myelolipoma.
139 citations
,
September 2001 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the Vitamin D receptor gene can cause hair loss similar to mutations in the Hairless gene.
January 2024 in “JCEM case reports” This is the first known case of parathyroid cancer in a patient with Birt Hogg Dube Syndrome.
The balance between cell renewal and differentiation controls the growth of cancerous cells in mouse skin.
21 citations
,
January 2018 in “PLoS Genetics” Certain genetic variants in keratins increase the risk of tooth decay.
12 citations
,
February 2008 in “Journal of The American Academy of Dermatology” Combining skin tissue pathology with genetics has greatly improved the diagnosis and understanding of certain skin diseases.
1 citations
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September 2021 in “Journal of Cosmetic Dermatology” Certain gene variations may increase the risk of hair loss in Egyptians.
1 citations
,
September 2011 in “Journal of Dermatology” A woman with a new PTCH gene mutation has both Gorlin syndrome and severe hair loss.
39 citations
,
September 2012 in “Human Reproduction” Certain genetic variations in the SHBG gene are linked to an increased or decreased risk of PCOS in Mediterranean women.
13 citations
,
August 2021 in “Frontiers in Aging Neuroscience” Hearing decline in SAMP8 mice starts before outer hair cell loss and may be linked to other changes.
October 2024 in “Journal of the Endocrine Society” A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.
87 citations
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March 2007 in “Biological Chemistry” Deleting the scd1 gene in mice prevents obesity by disrupting skin lipids and improving heat regulation.
27 citations
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July 1997 in “PubMed” The harlequin ichthyosis mouse mutation causes thick skin and early death, resembling a human skin disorder.
August 2023 in “Sabuncuoglu Serefeddin Health Sciences” CT60 polymorphism might increase the risk of Alopecia Areata.
10 citations
,
October 2018 in “Journal of molecular and cellular cardiology/Journal of Molecular and Cellular Cardiology” The gene NM_026333 slows down aging by affecting the NCX1 pathway and could be targeted for anti-aging treatments.
4 citations
,
January 2014 in “International Journal of Trichology” A 12-year-old boy with a rare genetic condition has progressive hair loss with no effective treatment.
January 2023 in “Indian Dermatology Online Journal” Uncombable hair syndrome is linked to Zellweger syndrome.
Early diagnosis and management of Sheehan's syndrome are crucial for improving quality of life and fertility.
Higher TGF-β signaling may increase skin cancer risk in organ transplant recipients.
April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” Li2CO3 improved skin disease in a mouse model of Focal Dermal Hypoplasia without toxicity.
2 citations
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March 2024 in “Pediatric Dermatology” Two siblings have a rare hair condition caused by a new genetic variant.
January 2015 in “Indian Journal of Medical Biochemistry” Men with early balding should be checked for metabolic syndrome, as there's a link between the two.
11 citations
,
February 2018 in “Amino acids” Copper and iron cause keratin damage in hair by converting methionine to homocysteine.
41 citations
,
January 1992 in “Journal of medical genetics” The study found that males with KFSD had severe skin and eye symptoms, while female carriers had milder symptoms.
6 citations
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January 2014 in “Clinical hemorheology and microcirculation” Hereditary elliptocytosis causes elongated red blood cells and can lead to mild or no symptoms.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” HPV8 causes hair follicle stem cells to grow, leading to skin lesions.