13 citations
,
April 1982 in “The Journal of Dermatology” Poly(ADP-ribose) synthesis is linked to skin cell differentiation.
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.
April 2019 in “Journal of Investigative Dermatology” Non-coding RNA boosts retinoic acid production and signaling, aiding regeneration.
7 citations
,
January 2008 in “Indian Journal of Dermatology” Pigmentary mosaicism causes skin color changes and can affect multiple body systems, but has no cure.
April 2020 in “Journal of the Endocrine Society” Non-classic congenital adrenal hyperplasia (NCCAH) can mimic PCOS and requires genetic testing for proper diagnosis and treatment.
13 citations
,
January 2010 in “Immunopharmacology and immunotoxicology” Diphencyprone increases Bcl-2 protein in patients with hair regrowth from alopecia areata.
4 citations
,
November 2020 in “Acta Dermato Venereologica” Tofacitinib effectively improved severe skin symptoms in a patient with Hypohidrotic Ectodermal Dysplasia.
19 citations
,
August 1999 in “European journal of endocrinology” The study concluded that testing hormone levels after stimulation is not reliable for identifying carriers of 21-hydroxylase deficiency; genetic testing is necessary.
62 citations
,
January 2010 in “Hormone research in paediatrics” Genetic screening is crucial for accurately diagnosing APS-1 due to its varied symptoms.
37 citations
,
January 2006 in “Carcinogenesis” Antizyme slows skin tumor growth by reducing cell growth in mice.
May 2025 in “Acta Dermato Venereologica” The Paxbp1 gene is crucial for healthy hair follicles.
December 2004 in “PLoS ONE” The Foxn1(-/-) phenotype disrupts hair growth and affects skin stem cells.
133 citations
,
June 1993 in “Molecular and Cellular Biology” The human K5 promoter controls specific gene expression in skin cells, with key regulatory elements near the TATA box.
January 2025 in “Dermatology Research and Practice” Higher activity in lichen planopilaris is linked to certain immune and tissue genes.
40 citations
,
January 2017 in “Intestinal Research” Genotyping for NUDT15 p.Arg139Cys can help predict thiopurine side effects in Japanese IBD patients.
December 1998 in “福井大学教育学部紀要 第4部 教育科学” HA-P5 effectively treats acne without causing side effects seen in other treatments.
3 citations
,
March 2016 in “Experimental Dermatology” A mutation in the hairless gene speeds up severe itchy skin in mice on a special diet.
92 citations
,
April 2009 in “Journal of Investigative Dermatology” The Celsr1 gene is crucial for normal hair patterning in mice.
Genetic factors in PCOS are complex, with potential influences from the MC4R gene.
June 2024 in “British Journal of Dermatology” Black women with CCCA are more likely to have uterine fibroids.
64 citations
,
February 2008 in “Cancer Research” Inactivating both p53 and Rb genes in mice speeds up aggressive skin cancer development.
3 citations
,
July 2022 in “Brain and Behavior” The HtrA1L364P mutation causes brain dysfunction and blood vessel damage.
33 citations
,
September 2017 in “Journal of clinical immunology” New treatments for immune disorders caused by FOXN1 deficiency are promising.
27 citations
,
February 2003 in “European Journal Of Oral Sciences” SVpgC2a cells show abnormal growth and keratin changes, modeling early cancer development.
5 citations
,
May 2020 in “Life science alliance” Removing integrin α3β1 from hair stem cells lowers skin tumor growth by affecting CCN2 protein levels.
6 citations
,
August 2016 in “Journal of Visualized Experiments” The CUBIC protocol allows detailed 3D visualization of proteins in mouse skin biopsies.
October 2021 in “Journal of Investigative Dermatology” Skin changes in Pseudoxanthoma elasticum patients can indicate the severity of related health issues.
47 citations
,
August 2014 in “The Journal of Clinical Endocrinology and Metabolism” The research suggests that the global distribution of PCOS is likely due to historical human migration and that genes affecting PCOS may have different impacts on males and females.
5 citations
,
September 2018 in “Journal of Investigative Dermatology” Keratinocyte cytokines and genetic variations influence the development of moles and skin pigmentation.
76 citations
,
September 1992 in “Endocrinology” The human type II 5α-reductase gene has a specific structure important for understanding certain medical conditions.