January 1999 in “American Journal of Medical Genetics Part A” The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
10 citations
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November 2020 in “American Journal Of Pathology” Integrin β1 is crucial for liver structure and function, preventing fibrosis.
September 2016 in “Journal of Dermatological Science” Björnstad syndrome causes twisted hair from birth.
990 citations
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October 1999 in “Development” Activated LEF/TCF complexes are crucial for hair development and cycling.
January 2013 in “Kidney international” A man with kidney tumors and lung cysts was diagnosed with Birt–Hogg–Dubé syndrome and treated successfully, with genetic testing confirming the diagnosis.
August 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Too much β-catenin activity can mess up the development of mammary glands and make them more like hair follicles.
21 citations
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January 2016 in “Skin appendage disorders” Alfredo Rebora suggested a new, easier way to classify hair loss in Telogen Effluvium, adding a type possibly related to autoimmune diseases.
39 citations
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July 2015 in “British Journal of Dermatology” The pseudo 'fringe sign' can also appear in frontal fibrosing alopecia, not just in traction alopecia, showing that this condition may be more common than thought.
8 citations
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December 2017 in “Small Ruminant Research” Variation in the TCHH gene affects wool curliness in sheep.
188 citations
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October 2014 in “Thyroid” Dabrafenib was effective and well tolerated in treating thyroid cancer with a specific mutation.
8 citations
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October 2024 in “Developmental Cell”
January 2024 in “Genetics in Medicine Open” Adults with Tatton-Brown-Rahman syndrome may have serious heart problems and need lifelong heart monitoring.
5 citations
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March 2021 in “Hepatitis Monthly” Tenofovir alafenamide fumarate is effective and safer for hepatitis B, with fewer side effects than tenofovir disoproxil fumarate.
250 citations
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November 2003 in “The Journal of Cell Biology” BMP receptor IA is essential for proper hair cell differentiation in mice.
January 2024 in “Wiadomości Lekarskie” Pulmonary artery thrombectomy is safe and effective but not widely used.
145 citations
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May 2008 in “Cancer Science” Cancer cells often have more copies of TERT and TERC genes, which helps them grow and could affect patient outcomes.
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October 2012 in “Journal of Heredity” The Itpr3 gene causes a specific hair pattern in mice.
2 citations
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March 2024 in “Pediatric Dermatology” Two siblings have a rare hair condition caused by a new genetic variant.
December 2012 in “Expert review of dermatology” New findings suggest the protein linked to Birt–Hogg–Dubé syndrome is important in cell signaling and could affect treatment understanding.
3 citations
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March 2017 in “Pediatric Dermatology” FOXN1 duplication can cause excessive hair growth.
June 2023 in “British Journal of Dermatology” Coinheritance of BRCA2 and CYLD genes may lead to new treatment options for certain cancers.
23 citations
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May 2023 in “Cell Proliferation” TGF-β and FGF pathways are crucial for skin development and regeneration.
24 citations
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September 2019 in “Experimental cell research” BMP2 helps hair follicle stem cells become specialized by increasing PTEN, which causes autophagy.
July 2025 in “International Journal of Trichology” Telogen effluvium is a common hair loss condition requiring careful diagnosis and treatment.
September 2018 in “Dermatologic Surgery” 44 citations
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January 2013 in “BMC Dermatology” TGFβ signaling prevents sebaceous gland cells from producing fats.
March 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” Minoxidil treatment improves heart defects in a DiGeorge syndrome model.
1 citations
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April 2023 in “International Journal of Molecular Sciences” Botryococcus terribilis Ethanol Extract may reduce inflammation by changing gene expression in cells.
February 2026 in “Small Ruminant Research” The IRF2BP2 gene affects sheep fleece quality by influencing fiber traits.
January 2026 in “Figshare”