6 citations,
February 2004 in “Clinical and Experimental Ophthalmology” The document concludes that careful diagnosis is crucial for chromosome 13q deletion syndrome, tamoxifen can cause reversible eye damage, finasteride may be linked to cataracts, and OCT is useful for diagnosing macular diseases.
69 citations,
December 2005 in “Nature Clinical Practice Endocrinology & Metabolism” Blocking the enzyme 11β-HSD1 might help treat obesity and metabolic issues.
April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific mutation in the TRPV3 gene causes hair follicle cells to develop improperly, leading to hair loss.
3 citations,
October 2021 in “Journal of Cosmetic Dermatology” Trichoscopy helps tell apart Frontal Fibrosing Alopecia and Lichen planopilaris by showing different hair and scalp features.
1 citations,
September 2019 in “Steroids” Two new mutations in the AR gene linked to severe androgen insensitivity were found.
April 2024 in “The journal of investigative dermatology/Journal of investigative dermatology” ASH2L is essential for skin and hair development.
January 2024 in “JAAD case reports” Netherton syndrome can cause severe and chronic vulvovaginal symptoms that may improve with continuous oral contraceptives.
253 citations,
April 2008 in “Current opinion in cell biology” Notch signalling helps skin cells differentiate and prevents tumors.
37 citations,
June 2011 in “Journal of Cellular Biochemistry” Androgen is important in controlling stem cell differentiation, reducing fat development, and increasing lean mass.
34 citations,
July 2020 in “American journal of human genetics” Changes in the SREBF1 gene cause a rare genetic skin and hair disorder.
15 citations,
March 2000 in “The journal of investigative dermatology/Journal of investigative dermatology” As skin cells mature, vitamin D receptor levels decrease while retinoid X receptor α levels increase.
14 citations,
January 2015 in “Genetics and molecular research” The transition from growth to regression in Cashmere goat hair follicles involves changes in expression of genes related to keratin and cell differentiation.
12 citations,
May 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” Laminin 332 is essential for normal skin cell behavior and structure.
9 citations,
May 2021 in “Frontiers in Cell and Developmental Biology” DNA methylation changes in women with PCOS could be used as disease markers and suggest new treatment targets.
5 citations,
July 2022 in “Orphanet journal of rare diseases” RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.
5 citations,
January 2015 in “Case reports in medicine” A baby was diagnosed with IFAP syndrome due to a new genetic mutation, showing severe skin and developmental issues.
3 citations,
January 2023 in “Science advances” The enzymes Tet2 and Tet3 are important for skin cell development and hair growth.
August 2022 in “Journal of Comprehensive Pediatrics” A girl with a rare genetic disorder had a unique bone condition, highlighting the need for careful diagnosis and suggesting the disorder might be more common than thought.
Controlling Tslp can improve health in AEC syndrome patients.
152 citations,
April 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
132 citations,
August 2012 in “Biochimica et Biophysica Acta (BBA) - General Subjects” TGF-β signaling is crucial for stem cell maintenance, differentiation, and has implications for cancer treatment.
112 citations,
August 2012 in “The American Journal of Human Genetics” Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
61 citations,
January 2011 in “PloS one” Notch signaling is essential for healthy skin and hair follicle maintenance.
40 citations,
November 2019 in “Frontiers in Endocrinology” Metabolic Syndrome is linked to several skin conditions, and stem cell therapy might help treat them.
39 citations,
October 2012 in “Familial cancer” New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.
37 citations,
February 2005 in “Journal of Investigative Dermatology” Overexpression of SSAT causes hair loss and skin issues, but reducing putrescine can help.
21 citations,
August 2017 in “Journal of veterinary internal medicine” Combining amino acid and stem cell therapy may help manage hepatocutaneous syndrome in dogs.
13 citations,
April 2019 in “iScience” EGFR helps control how hair grows and forms without needing p53 protein.
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May 1998 in “Child's nervous system” A baby had a rare condition with abnormal blood vessels in the brain and unusual skin and hair growth, possibly a new syndrome.
9 citations,
May 2014 in “BMC medical genetics” A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.