46 citations
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November 2019 in “Journal of Integrative Plant Biology” CaM7 and CNGC14 interaction controls root hair growth in Arabidopsis.
January 2025 in “JCEM Case Reports” Diagnosing and managing Glucocorticoid Resistance Syndrome is complex due to genetic differences and varied symptoms.
January 2024 in “Genetics in Medicine Open” Adults with Tatton-Brown-Rahman syndrome may have serious heart problems and need lifelong heart monitoring.
April 2018 in “Journal of Investigative Dermatology” High amphiregulin in the skin is a bad sign for acute graft-versus-host disease.
76 citations
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January 1998 in “Mammalian Genome” The enzyme Dgat1 is essential for healthy hair and skin by controlling retinoid levels.
94 citations
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April 2002 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” A new gene mutation causes female pseudohermaphroditism due to glucocorticoid resistance.
April 2020 in “Rheumatology” Many patients with Giant Cell Arteritis did not follow their steroid treatment plans properly.
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September 2015 in “Psychoneuroendocrinology” 5α-reductase affects dopamine receptors linked to sensorimotor gating, which may help understand disorders like schizophrenia.
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March 2014 in “Scandinavian journal of clinical and laboratory investigation” Malondialdehyde-modified DNA may trigger an immune response in alopecia areata patients.
October 2019 in “European heart journal” Androgen-deprivation therapies increase the risk of certain heart conditions, but testosterone treatment may help.
April 2025 in “International Journal of General Medicine” The G allele of IFITM3 rs12252 is linked to more severe COVID-19.
July 2005 in “The American Journal of Human Genetics” The AR gene is linked to male-pattern baldness, TNFSF4 to heart disease, SLC19A3 to BBGD, MCT8 to a syndrome, and segmental duplications to genetic variation.
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November 2022 in “Diagnostics” A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.
September 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” N-acetyl-GED may help prevent and partially reverse a process that leads to scarring hair loss.
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December 2014 in “Molecular cytogenetics” A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
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October 2019 in “Immunological investigations” The AIRE gene variant rs2075876 is linked to a higher risk of alopecia areata in males.
9 citations
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January 1997 in “Endocrine Journal” Gonadal biopsy is the best method to diagnose gonadal dysgenesis.
46 citations
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August 2006 in “PubMed” A genetic defect causes males in some Mediterranean populations to be born with ambiguous genitalia and develop male traits at puberty.
June 2025 in “British Journal of Dermatology” ALUDWIG can help standardize female hair loss assessment from a single image.
April 2016 in “Journal of Investigative Dermatology” Gypenosides from Gynostemma pentaphyllum were found to have anti-aging effects, increasing skin collagen and reducing wrinkles.
September 2003 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” GLABRA2 gene controls root-hair growth by regulating phospholipid signaling.
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August 1999 in “Nature Genetics” 21 citations
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March 2015 in “Neurological Sciences” A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.
November 2010 in “International Journal of Developmental Neuroscience” 86 citations
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November 2015 in “Journal of Gastroenterology” The NUDT15 R139C variant causes thiopurine-induced leukocytopenia through a different mechanism than previously thought in Japanese patients with inflammatory bowel disease.
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August 2005 in “Journal of Investigative Dermatology Symposium Proceedings” Mutations in the DSG4 gene cause fragile, sparse hair in humans, mice, and rats.
June 2020 in “Zenodo (CERN European Organization for Nuclear Research)” The DNMT3B -579G>T polymorphism may increase the risk of colorectal cancer.
260 citations
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July 2010 in “Cell” Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
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November 2018 in “The journal of pain/Journal of pain” 14,15-EET may help reduce poststroke pain by affecting certain brain proteins.