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.
4 citations
,
January 2020 in “Dermatology Online Journal” Congenital atrichia with papular lesions causes permanent hair loss and skin bumps due to a gene mutation.
July 2024 in “Journal of Investigative Dermatology” Inhibiting PDE8A may help treat hair loss by boosting fat cell growth and hair regeneration.
1 citations
,
September 2024 in “Animals” Specific gene variants affect wool traits in Chinese Tan sheep.
May 2009 in “OPAL (Open@LaTrobe) (La Trobe University)” Suppressing the HGPS mutation may improve symptoms and suggest reversibility.
5 citations
,
December 2014 in “Molecular cytogenetics” A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
January 2016 in “Institutional Repositories DataBase (IRDB)” Sebaceous glands help study fatty acid transporters and binding proteins.
78 citations
,
August 2012 in “Human molecular genetics online/Human molecular genetics” A new gene, JMJD1C, may affect testosterone levels in men.
October 2024 in “Frontiers in Pharmacology” Genetic variants can affect valproic acid's effectiveness, side effects, and levels in epilepsy treatment.
115 citations
,
December 2019 in “The Plant Journal” Nitrate helps plants manage phosphate uptake and starvation responses through NIGT1 proteins.
April 2025 in “Journal of the Association for Research in Otolaryngology” NM2 and RLC phosphorylation are essential for normal inner ear hair cell function.
Certain genetic variations are linked to hair loss in Mexican men.
September 2022 in “Canadian journal of animal science” Certain gene variations are linked to the thickness of cashmere goat hair.
April 2010 in “The Journal of Urology” Human prostate cells produce more WISP1/CCN4 when there's not enough oxygen.
103 citations
,
March 2015 in “Nature Communications” A genetic region near the PAX1 gene is linked to a higher risk of scoliosis in females.
36 citations
,
January 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” The document concludes that understanding genetic mutations in the PI3K-AKT-mTOR pathway can lead to better diagnosis and treatment for certain genetic skin disorders.
1 citations
,
April 2017 in “Journal of Investigative Dermatology” CCL5 is important for the hair growth potential of human dermal papilla cells.
54 citations
,
November 2015 in “Methods in enzymology on CD-ROM/Methods in enzymology” Keratins are important for skin cell health and their problems can cause diseases.
38 citations
,
February 2012 in “British Journal of Dermatology” AR/EDA2R gene linked to early-onset female hair loss, but 20p11 gene not involved.
71 citations
,
January 2011 in “Orphanet Journal of Rare Diseases” IFAP syndrome is a rare genetic disorder causing skin, hair, and eye issues, with limited treatment options.
34 citations
,
May 2001 in “Endocrinology” Mrp3 helps in wound healing and hair growth.
54 citations
,
November 2001 in “Urology” The length of the CAG repeat in the androgen receptor gene affects the risk and progression of prostate cancer, BPH, infertility, and undermasculinized genitalia.
January 2007 in “Journal of Inner Mongolia University” The research helps in creating genetically modified animals to study hair growth.
43 citations
,
April 1996 in “Journal of Investigative Dermatology”
5 citations
,
January 2018 The conclusion is that a new test was created to find substances that affect specific ion channels, and it works well for drug discovery.
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.
3 citations
,
January 2022 in “Burns & Trauma” CTHRC1 helps sweat glands recover by rebuilding nearby blood vessels.
June 2023 in “Journal of Biological Chemistry” Get3d protein helps maintain photosynthesis in plants and photosynthetic bacteria.
31 citations
,
April 2004 in “Journal of Investigative Dermatology” A new mouse gene, Keratin 17n, is mainly found in nail tissue and may explain why mice without Keratin 17 don't have nail issues.
5 citations
,
April 1984 in “Archives of Dermatology” Porphyria cutanea tarda causes skin issues due to an enzyme deficiency.