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.
16 citations
,
July 2021 in “American Journal of Medical Genetics Part A” Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.
May 2021 in “Journal of Advances in Internal Medicine” A 13-year-old with 46 XY DSD had ambiguous genitalia due to incomplete masculinization.
10 citations
,
August 2023 in “The EMBO Journal” Kdm6b is crucial for skin cell differentiation.
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
1 citations
,
August 2012 in “Journal der Deutschen Dermatologischen Gesellschaft” A woman's hyperandrogenism was caused by a genetic mutation leading to non-classic adrenogenital syndrome.
June 2021 in “International journal of research in dermatology” A boy and his father with hereditary hypotrichosis simplex were treated for hair loss, but the treatment result is unknown.
6 citations
,
August 2022 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” New genetic mutations linked to rare skin disorders were found in three newborns.
202 citations
,
August 2017 in “Nature cell biology” Lactate production is important for activating hair growth stem cells.
43 citations
,
April 1996 in “Journal of Investigative Dermatology”
7 citations
,
July 2020 in “Immunological Investigations” The rs231775 genetic variant is linked to a higher risk and severity of Alopecia Areata in males.
74 citations
,
October 1998 in “Journal of biological chemistry/The Journal of biological chemistry” The 190-kbp domain contains all human type I hair keratin genes, showing their organization and evolution.
April 2018 in “Journal of Investigative Dermatology” DNMT3A is crucial for healthy skin and hair growth.
Understanding genetics is crucial for treating heart and skin diseases.
41 citations
,
November 2011 in “The Journal of Dermatology” Some hair loss disorders are caused by genetic mutations affecting hair growth.
7 citations
,
April 2020 in “JIMD Reports” ATP6AP1‐CDG can cause hearing loss, hair loss, and protein issues, even in female carriers.
January 2007 in “Journal of Southwest University” The ND1 gene of the Asian black bear Sichuan subspecies is similar to other bear species.
5 citations
,
October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” The research linked PLCD1 gene variants to the development of trichilemmal cysts.
114 citations
,
May 2001 in “Development” Overexpression of Hoxc13 in hair cells causes hair loss and skin issues.
2 citations
,
August 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific mutation in the K25 gene causes a rare genetic disorder with curly hair at birth and later hair loss, along with dental issues.
11 citations
,
July 2021 in “Physiologia Plantarum” SIPHL1 from tomato enhances plants' response to low phosphate levels.
NCBP3, SDHA, and PTPRA are the best genes for normalizing goat skin experiments.
January 2013 in “International Journal of Trichology” A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.
70 citations
,
December 2004 in “Differentiation” The study identified and characterized new keratin genes linked to hair follicles and epithelial tissues.
1 citations
,
August 2019 in “Journal of pediatric & adolescent gynecology” A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.
22 citations
,
September 2003 in “Journal of Investigative Dermatology” New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.
12 citations
,
April 2019 in “Scientific Reports” A protein called HMGB1 helps hair grow by affecting prostaglandin metabolism.
Defective nuclear transport may cause gene expression changes in Progeria.
1 citations
,
February 2009 in “Clinical Genetics” New genes linked to male pattern baldness were found on chromosome 20p11.
179 citations
,
June 2000 in “The American journal of pathology” The absence of functional sebaceous glands causes hair follicle destruction and scarring alopecia.