134 citations
,
June 2005 in “Neuropsychopharmacology” GABRA2 gene variations impact alcohol response, and hair loss medication finasteride reduces some effects.
35 citations
,
October 2010 in “The American journal of pathology” Researchers created a new mouse model for studying Citrullinemia Type I and similar conditions, showing symptoms and treatment responses like those in humans.
June 2021 in “EBioMedicine” The authors maintain that shorter androgen receptor alleles may lead to milder COVID-19 by positively affecting the immune response, not due to changes in testosterone levels or activity.
47 citations
,
December 2019 in “Frontiers in immunology” A new mutation in the STING protein causes a range of symptoms and its severity may be affected by other genetic variations; treatment with a specific inhibitor showed improvement in one patient.
38 citations
,
September 1997 in “The journal of investigative dermatology/Journal of investigative dermatology” A mutation in mice causes hair loss and skin issues due to a defect in a gene affecting cell adhesion.
81 citations
,
November 2012 in “Journal of the National Cancer Institute” The tumor suppressor gene FLCN affects mitochondrial function and energy use in cells.
74 citations
,
August 2016 in “Current opinion in pediatrics, with evaluated MEDLINE/Current opinion in pediatrics” Both vitiligo and alopecia areata involve an immune response triggered by stress and specific genes, with treatments targeting this pathway showing potential.
62 citations
,
January 2010 in “Hormone research in paediatrics” Genetic screening is crucial for accurately diagnosing APS-1 due to its varied symptoms.
52 citations
,
November 2003 in “Journal of Investigative Dermatology” Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
52 citations
,
October 1999 in “Developmental Dynamics” Mutations in the hairless gene in mice affect its expression and lead to a range of developmental issues in multiple tissues.
50 citations
,
March 2000 in “American Journal of Clinical Dermatology” Alopecia Areata has no guaranteed treatment for hair regrowth, but options like corticosteroids and minoxidil are used, with future research focusing on genetic and immune therapies.
48 citations
,
May 2015 in “PLOS ONE” DNA variants can predict male pattern baldness, with higher risk scores increasing baldness likelihood.
48 citations
,
November 2002 in “Journal of biological chemistry/The Journal of biological chemistry” Genetic variations in hair keratin proteins exist but don't significantly affect hair structure.
38 citations
,
August 2009 in “Current opinion in pediatrics, with evaluated MEDLINE/Current opinion in pediatrics” Alopecia areata is a common autoimmune disease affecting hair follicles, with unclear causes and a need for better treatments.
15 citations
,
December 2010 in “Fertility and sterility” Metformin works better for adolescent girls with PCOS who have certain genetic variations.
1 citations
,
September 2021 in “IntechOpen eBooks” The PCR technique can identify genetic differences in a wool-related gene among different sheep breeds, which may help improve wool and pelt quality.
1 citations
,
March 2004 in “Journal of the American Academy of Dermatology” Certain genes are linked to the risk of developing Alopecia Areata.
January 2019 in “Elsevier eBooks” Lichen Planopilaris is a hair loss condition best treated early with various medications, including hydroxychloroquine, to prevent permanent baldness.
391 citations
,
February 2010 in “Journal of The American Academy of Dermatology” Half of people with Alopecia Areata may see hair regrowth within a year without treatment, but recovery is unpredictable.
185 citations
,
January 2006 in “Autoimmunity Reviews” Alopecia areata is an autoimmune condition causing hair loss due to the immune system attacking hair follicles, often influenced by genetics and stress.
152 citations
,
April 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
111 citations
,
October 2008 in “Nature Genetics” Researchers found a new gene area linked to male-pattern baldness, which, along with another gene, significantly increases the risk of hair loss in men.
109 citations
,
September 2011 in “Human molecular genetics online/Human molecular genetics” New treatments targeting specific genes show promise for treating keratin disorders.
103 citations
,
March 2015 in “Nature Communications” A genetic region near the PAX1 gene is linked to a higher risk of scoliosis in females.
47 citations
,
November 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.
39 citations
,
January 2011 in “Journal of The American Academy of Dermatology” Some patients with mycosis fungoides or Sézary syndrome experience hair loss, which may be similar to alopecia areata or linked to skin lesions, possibly due to abnormal T cells, and bexarotene can help treat it.
38 citations
,
June 2012 in “British Journal of Dermatology” AR/EDA2R gene linked to early-onset female hair loss, but 20p11 gene not involved.
29 citations
,
January 2010 in “Methods in Enzymology” The document concludes that careful design of genetic fate mapping experiments is crucial for accurate cell lineage tracing in mice.
27 citations
,
July 2013 in “The journal of investigative dermatology/Journal of investigative dermatology” Somatostatin may help protect hair follicles from immune attacks.
27 citations
,
June 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” The study found that variations in hair protein genes are likely due to evolutionary deletions or duplications.