April 2012 in “Neuropediatrics” Trichothiodystrophy is a rare genetic disorder causing hair issues and sometimes linked to DNA repair defects.
105 citations
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February 1996 in “Journal of biological chemistry/The Journal of biological chemistry” The TGM3 gene's promoter region is key for skin and hair cell function and may aid gene therapy.
May 2026 in “ACS Catalysis” The study investigates the catalytic mechanism of steroid 5α-reductase type 2 (SRD5A2), focusing on the dynamic interactions among residues that affect enzyme kinetics. Using QM/MM simulations, it was found that residues Tyr33 and L224 compress the donor, altering free energy barriers and supporting the preorganization theory. Additionally, six other residues (Trp53, Arg94, Cys119, Glu197, Phe223, and Arg227) form a network that stabilizes transition states through electrostatic and structural interactions. The L224P mutant analysis shows that losing L224 compression increases energy barriers by 3.3-3.4 kcal/mol, highlighting the importance of dynamic and electrostatic coordination for efficient catalysis.
January 2024 in “OPAL (Open@LaTrobe) (La Trobe University)” TRPV3 channels are involved in skin processes and are affected by shear stress, influencing itch and mechanotransduction.
7 citations
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October 2018 in “Journal of Mind and Medical Sciences” Type 3C diabetes is a distinct condition needing more research and treatment strategies.
12 citations
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January 2016 in “Endocrinology, diabetes & metabolism case reports” Testosterone therapy improved physical and social health in a male with 49,XXXXY syndrome.
January 2013 in “International Journal of Trichology” A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.
20 citations
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June 2007 in “Recent Patents on Endocrine, Metabolic & Immune Drug Discovery” Certain inhibitors can potentially treat prostate cancer and other hormone-dependent conditions by controlling sex hormone levels in cells.
16 citations
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March 2013 in “The Journal of Dermatology” Low TRPS1 expression in skin and hair cells is linked to hair problems in Trichorhinophalangeal syndrome.
1 citations
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December 2018 in “Journal of genetic medicine” A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.
15 citations
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December 2020 in “The Journal of General Physiology” Acid can block TRPV3 from outside the cell but boost its function from inside.
August 2023 in “Zenodo (CERN European Organization for Nuclear Research)” 124 citations
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November 2000 in “The journal of investigative dermatology/Journal of investigative dermatology” PAD3 plays a key role in hair and skin protein structure and may be linked to skin diseases.
16 citations
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August 2021 in “Tumor Biology” TMPRSS2 helps viruses enter cells and protects the prostate from inflammation-related cancer.
August 2019 in “Journal of Invertebrate Pathology” Thymosin beta 4 protects cells from damage by blocking a harmful microRNA and boosting a protective gene.
2 citations
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June 2023 in “Journal of cell science” Mutations in iRhom2 affect hair and skin in mice and are linked to esophageal cancer, with ADAM17 playing a crucial role.
October 2024 in “Frontiers in Oncology” A new gene mutation linked to Olmsted syndrome may increase cancer risk, suggesting the need for ongoing patient monitoring.
April 2020 in “Journal of the Endocrine Society” Type 3 acromegaly patients have more health issues and higher death risk.
Tjalma Syndrome is a rare condition in people with lupus, causing fluid buildup and high CA-125 levels, but not due to tumors.
July 2025 in “SKIN The Journal of Cutaneous Medicine” Ritlecitinib effectively improves hair regrowth and physician satisfaction in severe alopecia areata over time.
May 2022 in “Reactions Weekly”
8 citations
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July 2018 in “Analytical sciences” Using 5-butylpicolinate esters improves the sensitivity and reliability of detecting testosterone and dihydrotestosterone in saliva.
Teprotumumab for thyroid eye disease commonly causes fatigue, brittle nails, dry eyes, hair loss, muscle spasms, and dry mouth, with rare serious events like blood clots.
January 2026 in “Zenodo (CERN European Organization for Nuclear Research)” January 2026 in “Zenodo (CERN European Organization for Nuclear Research)” 35 citations
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March 2013 in “American Journal of Medical Genetics Part B Neuropsychiatric Genetics” SRD5A2 gene variations affect PTSD symptoms differently in males and females.
26 citations
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January 1993 in “Dermatology” A rare case of isolated trichothiodystrophy was identified, marked by brittle hair with low sulfur content.
2 citations
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May 2025 in “Journal of the European Academy of Dermatology and Venereology” Ritlecitinib improves hair regrowth in alopecia areata over 24 months.
14 citations
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June 2022 in “Neuroscience” June 2023 in “Journal of Biological Chemistry” Get3d protein helps maintain photosynthesis in plants and photosynthetic bacteria.