3 citations
,
April 2020 in “American Journal of Case Reports” A new mutation in the HJV gene was found in a young woman with juvenile hemochromatosis, causing unusual symptoms like secondary hypothyroidism.
February 2016 in “Science” Foxc1 and COL17A1 are crucial for maintaining healthy hair follicles and preventing hair loss.
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
,
May 2024 in “BMC Genomics” Certain genetic changes in the KRT82 gene may cause patchy skin in New Zealand rabbits.
3 citations
,
October 2021 in “The Application of Clinical Genetics” Certain gene changes in osteopontin are linked to higher risk of atopic dermatitis and asthma.
A new genetic mutation was found causing hair and eye issues in a boy.
12 citations
,
August 2022 in “Stem cell reviews and reports” Increasing PBX1 reduces aging and cell death in hair follicle stem cells by boosting SIRT1 and lowering PARP1 activity.
32 citations
,
August 2020 in “American Journal Of Pathology” S100A4 promotes aggressive ovarian cancer and is a potential treatment target.
November 2022 in “Gigascience” A specific genetic deletion in goats affects cashmere yield and thickness.
3 citations
,
January 2008 in “Endocrine journal” A new mutation linked to partial Androgen Insensitivity Syndrome and prostate cancer was found in a patient unhappy with their female gender assignment.
28 citations
,
June 1995 in “The Journal of Dermatology” The flaky skin mouse mutation is a natural model for studying human psoriasis.
1 citations
,
October 2017 in “Circulation” A new technology showed that the SOX9 gene might control heart scar formation after injury, suggesting new treatment possibilities.
37 citations
,
July 1999 in “The EMBO Journal” Overexpression of certain genes can shorten hair by disrupting the hair-growth cycle.
Mutant Cx43 causes slower wound healing and hair growth issues in ODDD.
9 citations
,
August 2013 in “PLOS ONE” Genetic variants at 20p11 increase baldness risk in Chinese Han people.
April 2018 in “Journal of Investigative Dermatology” Screening for the NUDT15 gene variant can prevent severe side effects from thiopurine drugs in East-Asian people.
1 citations
,
July 2006 in “Journal of Investigative Dermatology” A 4kb fragment of the desmocollin 3 promoter targets gene expression to specific skin and hair follicle areas.
November 2005 in “PubMed” The hairless gene in Kunming mice is important for hair and skin, and shows genetic variations.
May 2009 in “OPAL (Open@LaTrobe) (La Trobe University)” Suppressing the HGPS mutation may improve symptoms and suggest reversibility.
11 citations
,
March 2020 in “American Journal of Medical Genetics Part A” A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.
9 citations
,
February 2002 in “PubMed” A new gene mutation causes hereditary coproporphyria with reduced enzyme activity.
October 2023 in “Journal of dermatological science” New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.
February 2024 in “Skin research and technology” The research suggests that immune cells and a specific type of cell death called ferroptosis are involved in Frontal fibrosis alopecia.
1 citations
,
September 2024 in “Animals” Specific gene variants affect wool traits in Chinese Tan sheep.
112 citations
,
August 2012 in “The American Journal of Human Genetics” Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
A specific gene change in APCDD1 increases the risk of hair loss.
May 2026 in “Scientific Reports” Overexpression of LRIG3 in skin causes hair loss.
July 2002 in “Science Signaling” Modified β-catenin can cause different effects in mouse skin cells, leading to cysts or tumors depending on the cell type.
64 citations
,
July 2016 in “Cold Spring Harbor Perspectives in Medicine” The p53 protein has complex, sometimes contradictory functions, including tumor suppression and promoting cell survival.
January 2009 in “OhioLink ETD Center (Ohio Library and Information Network)” p63 and p73 regulate the vitamin D receptor, affecting cancer cell behavior and vitamin D sensitivity.