A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
January 2024 in “Frontiers research topics” Comprehensive genetic testing and international collaboration are crucial for better understanding and managing Ehlers-Danlos syndromes.
December 2023 in “Journal of Thoracic Disease” Increased EGFR gene variations may predict chemotherapy outcomes in small cell lung cancer patients.
15 citations
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April 2024 in “Animals” Inner Mongolia cashmere goats have the lowest inbreeding, aiding future breeding and conservation.
6 citations
,
December 2013 in “Journal of Investigative Dermatology Symposium Proceedings” Alopecia areata involves complex immune and genetic factors, with potential treatment targets identified, but more research is needed.
4 citations
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January 2023 in “Proteomes” Tumor proteins can both promote and suppress cancer, depending on the situation.
1 citations
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October 2025 in “Micromachines” Portable point-of-care testing can improve quick and accurate genetic disorder detection.
318 citations
,
January 2022 in “Signal Transduction and Targeted Therapy” The Wnt/β-catenin pathway is important for body functions and diseases, and targeting it may treat conditions like cancer, but with safety challenges.
169 citations
,
February 2018 in “Immunity” Inactive stem cells in hair follicles and muscles can avoid detection by the immune system.
111 citations
,
August 2015 in “Reviews in Endocrine and Metabolic Disorders” 5α-reductase inhibitors may cause persistent sexual dysfunction and depression, needing more research on long-term effects.
87 citations
,
March 2017 in “Journal of Clinical Investigation” PSENEN gene mutations can cause both Dowling-Degos disease and acne inversa.
77 citations
,
September 2017 in “Journal of Investigative Dermatology” TRPV3 in skin cells causes inflammation and cell death.
62 citations
,
January 2015 in “Journal of Dermatological Science” New genetic discoveries may lead to better treatments for alopecia areata.
57 citations
,
January 2020 in “International Journal of Molecular Sciences” PADs are crucial for healthy skin and hair, and their imbalance can cause skin and hair disorders.
50 citations
,
February 2016 in “Journal of Investigative Dermatology” A mutation in the KRT25 gene causes a rare hair disorder with thin, woolly hair.
49 citations
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October 2023 in “Journal of Dermatological Science” 47 citations
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July 2023 in “Nature Genetics”
45 citations
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April 2019 in “International Immunology” The study concluded that immune cells attacking hair follicles cause hair loss in alopecia, with genetics and environment also playing a role, and highlighted the potential of certain treatments.
41 citations
,
May 2020 in “Frontiers in immunology” Hidradenitis suppurativa might be a type of autoinflammatory skin disease.
41 citations
,
July 2018 in “Frontiers in Neurology” Myotonic dystrophy may be classified as a segmental progeroid disorder.
37 citations
,
April 2018 in “Journal of Allergy and Clinical Immunology” A mutation in the IKZF1 gene causes immune system overactivity, linked to autoimmune diseases like lupus.
37 citations
,
November 2017 in “Medical Sciences” Melanoma's complexity requires personalized treatments due to key genetic mutations and tumor-initiating cells.
31 citations
,
October 2019 in “Genes & Diseases” Basal cell carcinomas and squamous cell carcinomas have different gene activity patterns, suggesting unique treatment approaches.
30 citations
,
June 2022 in “Animals” Key genes, including KRT39 and KRT74, influence hair length in Inner Mongolia cashmere goats.
29 citations
,
November 2022 in “Nature Medicine” Genetic variations greatly affect individual metabolism and can impact health and disease risk.
29 citations
,
October 2019 in “Journal of dermatological science” Studying premature aging syndromes helps understand human aging and suggests potential treatments.
28 citations
,
September 2021 in “EMBO reports” Osthole inhibits the TRPV3 channel by binding to specific sites, potentially aiding drug development for skin diseases and cancers.
27 citations
,
February 2023 in “Frontiers in Cell and Developmental Biology” WNT10B is important for body functions and linked to diseases like osteoporosis, obesity, and cancer.
26 citations
,
July 2020 in “Fertility and Sterility” Male infertility and genitourinary birth defects are often linked to genetic issues.
26 citations
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August 2018 in “Journal of Investigative Dermatology” Activating TRPV3 reduces skin oil production and increases inflammation, potentially causing dry skin issues.