4 citations
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March 1999 in “International Journal of STD & AIDS” This report details a case of severe recurrent bacterial vaginosis in a woman with Netherton's syndrome.
October 2020 in “International Journal of Medical Arts (Print)” This study found that for anterior cervical discectomy fusion in patients with degenerative cervical disc disease, the PEEK cage resulted in greater pain reduction, while the dynamic cervical implant maintained a slightly better range of motion.
24 citations
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June 1999 in “The Pediatric Infectious Disease Journal” In this case report, a 2-year-old boy initially diagnosed with Sweet syndrome was later found to have chronic granulomatous disease, highlighting the importance of considering CGD in unusual cases of Sweet syndrome.
May 2025 in “Cellular Oncology” This study suggests that dual inhibition of P-cadherin and c-Met could be an effective treatment strategy for head and neck squamous cell carcinoma by targeting resistant tumor cells.
October 2017 in “The American Journal of Gastroenterology” This case report details a 71-year-old man diagnosed with Cronkhite-Canada Syndrome, highlighting the importance of early diagnosis and endoscopic evaluation due to the disease's progressive nature and significant mortality risk.
June 2023 in “medRxiv (Cold Spring Harbor Laboratory)” This study found that nociplastic type pain is a complex and heritable trait, with significant genetic overlap with multisite chronic pain and some connection to rheumatoid arthritis and a neuropathic pain phenotype.
May 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” This research discusses a zebrafish model showing that nicastrin deficiency leads to tyrosinase-dependent depigmentation and melanophore cell death, suggesting implications for studying skin depigmentation disorders.
81 citations
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July 2008 in “The Journal of Clinical Endocrinology and Metabolism” This study found that cortisone reductase deficiency is caused by inactivating mutations in the H6PD gene, affecting cortisol metabolism by preventing 11β-HSD1 enzyme function.
17 citations
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June 2011 in “The journal of investigative dermatology/Journal of investigative dermatology” This study observed that mice with a Cx43 mutation exhibited slower and asynchronous hair regrowth with severe cuticle weathering, mimicking aspects of hair phenotype in some ODDD patients.
2 citations
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September 2024 in “Asian Journal of Andrology” In a retrospective cohort of patients with steroid 5 α-reductase 2 deficiency, this study identified seven novel genetic variants in the SRD5A2 gene, expanding the variant database and contributing to improved diagnostic and therapeutic approaches for the condition.
18 citations
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August 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study suggests that two approved drugs may inhibit the SARS-CoV-2 helicase based on significant activity in laboratory models, offering hope for potential COVID-19 treatments.
3 citations
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January 2021 in “Oxidative Medicine and Cellular Longevity” In this study, Nrf-2-expressing hair follicle mesenchymal stem cells showed the most significant therapeutic effect in a rat model of ulcerative colitis, suggesting a new potential treatment for the disease.
12 citations
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July 2004 in “Molecular genetics and genomics” This study identifies a new mutation in the Scd1 gene in a strain of Kunming mice, causing skin and hair defects with the mildest impact among similar mutations.
7 citations
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April 2006 in “Experimental Neurology” Finasteride blocks deoxycorticosterone's anticonvulsant effects in infant rats, but indomethacin doesn't.
January 2026 in “Case Reports in Dermatological Medicine” In this case study, a young female with aseptic and alopecic nodules of the scalp achieved full resolution without recurrence using intralesional steroids.
This study found that CYP21A2 gene mutations are the most common cause of non-classic congenital adrenal hyperplasia, while CYP11B1 mutations are rare and may partially impair enzyme activity.
10 citations
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October 2018 in “Journal of molecular and cellular cardiology/Journal of Molecular and Cellular Cardiology” This study identified NM_026333 as a potential anti-aging gene that, when induced, may alleviate proton-induced aging symptoms in CF6-overexpressing and high salt-fed mice.
153 citations
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January 2001 in “Science” In a neonatal rat model, this study found that topical CDK2 inhibitors reduced chemotherapy-induced hair loss in 33 to 50% of the animals, suggesting a potential strategy for preventing alopecia in cancer patients.
244 citations
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September 2008 in “Annual Review of Genomics and Human Genetics” This review examines the direct-to-consumer genetic testing market, highlighting the available tests, regulatory issues, and calls for increased oversight, and reports no new results.
46 citations
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November 2019 in “Journal of Integrative Plant Biology” This study found that calmodulin 7 (CaM7) inhibits the calcium channel CNGC14 in root hairs, affecting their polar growth by controlling calcium signaling.
70 citations
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May 2014 in “JAMA Dermatology” This study found that systematic review and protocol topics in the Cochrane Database for skin conditions are partly aligned with disease burden metrics, with some conditions overrepresented and others underrepresented compared to their disability-adjusted life years.
November 2024 in “Journal of Investigative Dermatology” Certain NK cell changes in blood may indicate alopecia areata progression.
January 1994 in “Journal of the society of cosmetic chemists” September 2014 in “The Journal for Nurse Practitioners”
May 2022 in “Gastroenterology” This study investigated the possible role of neutrophil extracellular traps in contributing to fibrosis in stenotic Crohn's disease.
6 citations
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November 2018 in “Case reports in nephrology and dialysis” This case report detailed a 71-year-old male with Cronkhite-Canada syndrome and associated membranous nephropathy, who showed a significant improvement in skin and gastrointestinal symptoms, and remission of nephropathy, after treatment with rituximab, cyclosporine, and azathioprine.
68 citations
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August 2009 in “American Journal of Medical Genetics Part A” This study systematically reviewed clinical findings in trichothiodystrophy patients and suggested a new clinico-genetic classification to help better understand the ichthyotic phenotype and its management.
January 2025 in “LA Referencia (Red Federada de Repositorios Institucionales de Publicaciones Científicas)” This study developed and validated educational technologies, including a guide and infographics, to assist healthcare professionals in managing post-COVID conditions, finding these resources well-suited for improving clinical care and widely accessible online.
April 2016 in “Journal of The American Academy of Dermatology” Using a niacinamide cream can improve life quality for breast cancer patients during chemotherapy.
9 citations
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August 2002 in “British journal of ophthalmology” This case report describes a young man diagnosed with encephalocraniocutaneous lipomatosis who had unique bilateral optic disc colobomas, a previously unreported association with this syndrome.