1 citations
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October 2022 in “Molecular therapy” The FDA approved the first gene therapy for a blood disorder after overcoming early challenges and demonstrating patient benefits.
October 2024 in “Journal of the Endocrine Society” Misdiagnosis led to unnecessary treatment due to a genetic mutation affecting thyroid hormone resistance.
August 2022 in “Archives of pediatric surgery” Hair-Thread Tourniquet Syndrome is a rare condition where hair or thread tightly wraps around a child's body part, requiring quick treatment to prevent damage.
2 citations
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June 2024 in “Parasites & Vectors” Chronic T. gondii infection may harm male fertility.
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.
September 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” Transglutaminase 2 may control sebocyte maturation and lipid metabolism.
August 2024 in “Cell Death and Disease” Activating TLR9 helps heal wounds and regrow hair by using specific immune cells.
4 citations
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February 2022 in “International Journal of Molecular Sciences” Myotonic Dystrophy may age cells faster, and drugs that target aging could be potential treatments.
January 2008 in “Vestnik Tomskogo gosudarstvennogo universiteta Filologiya” Overexpressing the Tβ4 gene in goats can increase cashmere production.
35 citations
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August 2006 in “Molecular genetics and metabolism” Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.
10 citations
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March 1997 in “Pediatric Dermatology” A rare case of trichothiodystrophy was found with autism, seizures, and mental retardation.
A rare genetic mutation causes severe immune issues, hair loss, and nail problems.
June 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Dopaminergic neurons in the gut have distinct subtypes, some releasing both dopamine and acetylcholine.
5 citations
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June 2015 in “The Journal of Dermatology” HTLV-1-associated lichenoid dermatitis (HALD) is linked to an immune response against HTLV-1-infected cells.
57 citations
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December 2021 in “Nature Communications” Non-canonical Wnt signaling helps intestinal stem cells move to injury sites for tissue repair.
July 2025 in “Journal of Investigative Dermatology” TRIV-509 quickly improves skin barrier and cell health in atopic dermatitis.
November 2022 in “Journal of Investigative Dermatology” Dynlt3 is important for melanosome transport and skin coloration.
372 citations
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December 2004 in “Nature Genetics”
32 citations
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January 2017 in “Orphanet journal of rare diseases” FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
3 citations
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August 2023 in “Drug safety” Proactive monitoring and management are essential to maximize the benefits of Trastuzumab Deruxtecan while minimizing serious side effects.
11 citations
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March 2002 in “Pediatric Dermatology” Temporal triangular alopecia is a non-scarring hair loss seen in some Asian children.
The man has Temporal Triangular Alopecia, a stable, non-scarring hair loss condition best treated with hair transplantation.
Introducing the OTC gene improved symptoms in mice with OTC deficiency.
4 citations
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October 2003 in “Annales de Génétique” A specific gene mutation causes different hair defects in Indian monilethrix families.
The study concludes that Twenty-nail dystrophy is more common in boys among children and in women among adults, with varying response to treatment.
18 citations
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November 2016 in “Transgenic research” Overexpressing Tβ4 in cashmere goats improves hair fiber traits and increases cashmere yield.
June 2023 in “British Journal of Dermatology” The protein called small nuclear ribonucleoprotein polypeptide E is identified as a cause of a type of hair loss without other symptoms.
3 citations
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January 2023 in “Science advances” The enzymes Tet2 and Tet3 are important for skin cell development and hair growth.
13 citations
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February 2012 in “International Journal of Dermatology” A new genetic mutation in the CDH3 gene causes hair loss and eye problems in young people.
January 2010 in “Chinese Journal of Dermatovenereology of Integrated Traditional and Western Medicine” A unique gene mutation was found in a family with monilethrix.