February 2011 in “Journal of Clinical Investigation” Genetically repaired stem cells may treat certain genetic diseases, Th17 cells are key in fighting systemic fungal infections, hair loss in AGA is due to progenitor cell loss, and α-synuclein transfer might contribute to Parkinson's disease progression.
7 citations
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January 2019 in “Australasian Journal of Dermatology” A genetic marker linked to a type of hair loss was found in most patients studied.
3 citations
,
March 2017 in “Pediatric Dermatology” FOXN1 duplication can cause excessive hair growth.
1 citations
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June 2016 in “Medicina” Monilethrix is a genetic disorder causing brittle hair, diagnosed using tricoscopy.
May 2024 in “LA Referencia (Red Federada de Repositorios Institucionales de Publicaciones Científicas)” Certain gene combinations may affect prostate cancer risk, and GSTP1 methylation is linked to tumor aggressiveness.
8 citations
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June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.
January 2008 in “US endocrinology” Mutations in the glucocorticoid receptor gene cause reduced sensitivity to glucocorticoids and may lead to poor response to treatment.
22 citations
,
January 2014 in “Journal of Interferon & Cytokine Research” Certain genetic variations in IL18 may increase the risk of alopecia areata in Koreans.
17 citations
,
June 2003 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings” Mutations in hKAP1 genes may cause hereditary hair disorders.
1 citations
,
April 2025 in “Animals” The KRTAP13-3 gene affects wool fibre diameter variability in Chinese Tan sheep.
78 citations
,
August 1996 in “The Journal of Clinical Endocrinology & Metabolism” The same gene mutation can cause different symptoms in family members.
50 citations
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September 2009 in “Molecular Genetics and Metabolism” A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.
8 citations
,
January 2013 in “Australasian journal of dermatology” Trichodysplasia spinulosa is a rare skin condition caused by a virus, treatable with antiviral medication.
1 citations
,
September 2023 in “Animals” A new goat gene affects cashmere fiber thickness; certain variations can make the fibers coarser.
37 citations
,
January 2010 in “Human Molecular Genetics” FTase and GGTase-I are essential for skin keratinocyte health.
47 citations
,
August 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.
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.
14 citations
,
September 2018 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.
3 citations
,
January 2025 in “动物学研究” The gene GJA1 is important for regulating coarse hair density in goats.
October 2011 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” Certain gene variations are significantly linked to hair loss, especially in white people.
March 2013 in “Pigment Cell & Melanoma Research” A gene called Taqpep affects cat coat patterns like stripes and blotches.
5 citations
,
February 2019 in “PloS one” Bald thigh syndrome in sighthounds is caused by structural defects in hair shafts due to downregulated genes and proteins.
8 citations
,
January 2023 in “International journal of molecular sciences” Transglutaminase activity is important for skin and is found in both mammals and birds.
2 citations
,
January 2024 in “Revista Paulista de Pediatria” A rare genetic mutation caused severe symptoms in a 6-year-old girl with mandibuloacral dysplasia type A.
65 citations
,
September 2014 in “BMC genomics” Different hair types in mammals are linked to variations in specific protein genes, with changes influenced by their living environments.
19 citations
,
July 2006 in “Acta crystallographica” Errors found in identifying furosemide and finasteride polymorphs due to incomplete data.
3 citations
,
July 2024 in “Frontiers in Medicine” Mutations in the KLHL24 gene cause a skin disorder in some Russian families.
32 citations
,
November 2020 in “UNC Libraries” A point mutation in the androgen receptor gene causes complete androgen insensitivity.
15 citations
,
June 2019 in “Biochemical Journal” A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.
94 citations
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July 2020 in “European Journal of Human Genetics” The guidelines ensure accurate genetic testing and reporting for 21-hydroxylase deficiency.