14 citations
,
February 2017 in “Scientific Reports” Certain variations of the HDAC9 gene can increase or decrease stroke risk in the Chinese population.
4 citations
,
January 2023 in “Frontiers in Immunology” Shorter telomeres in white blood cells may increase the risk of a common type of hair loss.
September 2017 in “Journal of Investigative Dermatology” LRIG1 protein affects hair growth by regulating skin receptors, leading to hair loss when overexpressed.
2 citations
,
July 2019 in “PLOS ONE” Certain genetic variations are linked to higher liver enzyme levels in patients treated for chronic hepatitis C with specific drugs.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A new mutation in the STING protein causes a disease with lupus-like symptoms and responds well to a specific inhibitor treatment.
53 citations
,
May 1996 in “The Journal of Clinical Endocrinology & Metabolism” Different mutations in the 5 alpha-reductase-2 gene were found in affected individuals in the Dominican Republic, suggesting no common ancestry.
4 citations
,
January 2017 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.
A new syndrome, Teelwani Syndrome, combines features of two rare genetic disorders.
7 citations
,
March 2023 in “The Journal of Biochemistry” LONRF1 is important for oxidative damage response and tissue remodeling during wound healing.
January 2024 in “Genetics in Medicine Open” Adults with Tatton-Brown-Rahman syndrome may have serious heart problems and need lifelong heart monitoring.
68 citations
,
August 2009 in “American Journal of Medical Genetics Part A” A new classification for trichothiodystrophy helps identify genetic causes and potential treatments.
March 2025 in “OncoTargets and Therapy” A specific genetic trait in tumor cells is linked to longer survival without disease in certain lymphoma patients.
13 citations
,
September 2007 in “International Journal of Dermatology” Vitamin D receptor gene variations are not linked to alopecia areata.
35 citations
,
March 2013 in “American Journal of Medical Genetics Part B Neuropsychiatric Genetics” SRD5A2 gene variations affect PTSD symptoms differently in males and females.
January 1996 in “Studia iuridica” Two new gene mutations cause a rare hair disorder.
17 citations
,
August 2015 in “Journal of Animal Science” The MTR gene affects wool quality and production in Chinese Merino sheep.
6 citations
,
November 2019 in “The application of clinical genetics” The study found that a specific genetic variation in the TNFα gene is significantly linked to Alopecia Areata in the Jordanian Arab population.
3 citations
,
May 2025 in “Cell Death and Disease” Targeting METTL1 may help slow papillary thyroid cancer growth and spread.
1 citations
,
November 2024 in “Diabetes Metabolic Syndrome and Obesity” A specific gene variant is linked to severe insulin resistance and hormone imbalance in a teenage girl.
26 citations
,
August 2014 in “Genetic Testing and Molecular Biomarkers” High levels of TNF-α may contribute to obesity and insulin resistance in PCOS, but not due to the C850T genetic variation.
Certain gene variations and different levels of BDNF and CRH hormones are linked to vitiligo.
15 citations
,
February 2014 in “PloS one” LIPH mutations in Japan cause varying degrees of hair loss and woolly hair.
January 2025 in “Turkish Journal of Cerebrovascular Diseases” CARASIL can cause different symptoms even with the same genetic mutation.
November 2012 in “Experimental and Clinical Endocrinology & Diabetes” A new genetic mutation causes severe Leydig cell hypoplasia, affecting sexual development.
4 citations
,
October 2003 in “Annales de Génétique” A specific gene mutation causes different hair defects in Indian monilethrix families.
January 2011 in “The Chinese Journal of Dermatovenereology” Shorter GGN repeats in the androgen receptor gene are linked to androgenetic alopecia.
45 citations
,
July 2009 in “Journal of human genetics” A gene variation is linked to hair thickness in Asians.
TLR2 is crucial for hair growth and regeneration, and boosting it can help prevent hair loss.
21 citations
,
October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.
28 citations
,
June 2021 in “Frontiers in immunology” A protein called lfTSLP is important in causing allergic and other skin diseases and could be a target for treatment.