305 citations
,
March 2008 in “AJP Endocrinology and Metabolism” SSAT is a key enzyme affecting cell growth and metabolism, with potential but risky use in disease treatment.
24 citations
,
April 2013 in “PLOS ONE” TNFα, IFNγ, and Substance P significantly affect prolactin levels in human skin, suggesting new treatments for skin and hair conditions.
6 citations
,
January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
Certain genetic variations are linked to hair loss in Mexican men.
April 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” TET enzymes are important for skin and hair development by controlling gene activity in specific areas.
4 citations
,
January 2009 in “PubMed” A mutation in the KRT86 gene causes hair fragility in a Turkish family.
37 citations
,
July 2002 in “Archives of Pathology & Laboratory Medicine” Tyrosinase and gp100 proteins can help diagnose and treat melanoma.
June 2010 in “Chinese Journal of Dermatology” A new gene mutation is linked to monilethrix in the studied family.
January 2026 in “Animals” TBX3 gene affects pigmentation and marking formation in Dun Mongolian horses.
7 citations
,
March 2011 in “Hormone and Metabolic Research” Certain gene variations might help protect against insulin resistance and glucose intolerance in people with Polycystic Ovary Syndrome.
January 2022 in “Research Square (Research Square)” High TSPEAR levels in colorectal cancer predict worse outcomes.
3 citations
,
August 2022 in “International Journal of Molecular Sciences” TSC2-/meth cells can cause skin lesions, hair growth, and lung issues, and may be treated with chromatin remodeling agents.
January 2023 in “Revista Paulista de Pediatria” A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
11 citations
,
January 1989 Two patients had a unique form of trichothiodystrophy with reduced high-sulfur proteins in their hair.
5 citations
,
June 2008 in “British Journal of Dermatology” 8 citations
,
December 2022 in “International journal of molecular sciences” Mice without the enzyme HSD17B3 still produce normal testosterone, suggesting they have different ways to make it compared to humans.
31 citations
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November 2015 in “PloS one” Reducing Tyrosinase prevents mature color pigment cells from forming in mouse hair.
7 citations
,
January 2021 in “The journal of gene medicine” Certain genetic differences may affect how likely someone is to get COVID-19 and how severe it might be.
April 2010 in “Dermatology Times” 1 citations
,
October 2023 in “Frontiers in Oncology” Genomic profiling for myeloid cancers can find important inherited mutations, but it's challenging when these mutations aren't related to the patient's symptoms.
3 citations
,
December 2018 in “Meta Gene” Certain gene variations increase male hair loss risk, influenced by hormone levels.
Certain gene variations and different levels of BDNF and CRH hormones are linked to vitiligo.
October 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Early regulatory T cells are crucial for normal skin pigmentation.
January 2025 in “International Journal of Genomics” Three genes, BMP4, POSTN, and WNT5A, may help treat keloids.
7 citations
,
January 2024 in “Cancer Research Communications” TAp63 and NRF2 work together to manage oxidative stress, preventing premature aging and aiding skin functions.
PmtHEE is a better model for studying pigmented skin because it includes melanocytes and shows improved cell differentiation.
59 citations
,
November 2011 in “Development” Trps1 is essential for proper hair follicle development.
January 2025 in “Dermatology Research and Practice” Higher activity in lichen planopilaris is linked to certain immune and tissue genes.
7 citations
,
September 2024 in “BMC Genomics” Two genes, ERBB4 and ROR1, may cause the unique pigmentation in Lanping black-boned sheep.
May 2024 in “JDDG Journal der Deutschen Dermatologischen Gesellschaft” A rare scalp tumor was removed from a 49-year-old woman, with a good outlook if benign but needing careful monitoring if malignant.