1 citations
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January 2012 in “InTech eBooks” Treating acute myeloid leukemia is challenging, especially in older adults, despite some advancements.
36 citations
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July 2014 in “Neuromuscular Disorders” A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.
July 2021 in “British Journal of Dermatology” The boy's genetic diagnosis of ectodermal dysplasia helped improve management and counseling for him and his sister.
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January 2015 in “Stem cells international” Mesenchymal Stem Cells (MSCs) are promising for multiple therapies, but more research is needed to fully understand and optimize their use.
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March 2013 in “The American journal of dermatopathology/American journal of dermatopathology” Birt–Hogg–Dubé Syndrome requires genetic testing for accurate diagnosis due to its similarities with tuberous sclerosis.
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May 2012 in “Pediatric Dermatology” Satoyoshi syndrome can cause hair loss and other serious health issues, and is hard to diagnose.
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September 2019 in “Journal of Investigative Dermatology” Anti-Desmocollin 3 antibodies can cause pemphigus-like symptoms in mice.
8 citations
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October 2020 in “Stem cell research & therapy” DNMT1 helps turn hair follicle stem cells into fat cells by blocking a specific microRNA.
January 2020 in “Medical journal of clinical trials & case studies” A 37-year-old male with severe skin and internal issues has a rare inherited skin condition called dystrophic epidermolysis bullosa.
April 2019 in “Journal of the Endocrine Society” A rare adrenal tumor in a woman only made DHEA-S, causing hair thinning, and was removed, fixing the hormone level.
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January 2019 in “Recent Advances in Biology and Medicine” A 5% DMSO and 5% BSA mix best preserves rabbit dermal papilla cells during cryopreservation.
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June 2003 in “PubMed” Alpha-difluoromethylornithine prevents cancer in mice but causes hair loss.
July 2024 in “International Journal of Molecular Sciences” MicroRNAs could help assess and manage multiple chronic diseases.
May 2022 in “Journal of Neurology Neurosurgery & Psychiatry” The woman's facial symptoms are best explained by primary Sjögren’s Syndrome.
PCOS may be linked to spina bifida in young females.
189 citations
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July 2009 in “The Journal of clinical investigation/The journal of clinical investigation” Epidermolysis bullosa simplex causes easily blistered skin due to faulty skin cell proteins, leading to new treatment ideas.
January 2023 in “Indian dermatology online journal” A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
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February 2018 in “Oncotarget” Lower SMAD2/3 activation predicts more severe skin cancer.
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June 2007 in “Journal of Biological Chemistry” MT-DADMe-ImmA can selectively kill head and neck cancer cells without harming normal cells.
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April 2024 in “Journal of Ovarian Research” miR-21 helps improve ovarian function recovery in treated mice.
47 citations
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June 2013 in “Biology of blood and marrow transplantation” Mice with human fetal thymic tissue and stem cells developed symptoms similar to chronic graft-versus-host disease.
July 2025 in “Current Stem Cell Research & Therapy” MSC-Exo are safe and effective for treating skin diseases.
12 citations
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February 2013 in “The Open Stem Cell Journal” DPSCs and SHED have great potential for medical treatments and tissue repair.
7 citations
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August 2017 in “Genetic testing and molecular biomarkers” A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.
22 citations
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September 2003 in “Journal of Investigative Dermatology” New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.
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October 2023 in “Children” Early diagnosis and comprehensive care are crucial for managing Focal Dermal Hypoplasia's complex symptoms.
August 2025 in “Indian Dermatology Online Journal” Early recognition and treatment of EPDS are crucial to prevent permanent hair loss.
July 2022 in “medRxiv (Cold Spring Harbor Laboratory)” Satoyoshi syndrome is likely an autoimmune disease that mainly affects young women and improves with immune-related treatments.
31 citations
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May 2021 in “Journal of endocrinological investigation” APS-1 in Italy shows diverse AIRE mutations and various autoimmune issues.
3 citations
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January 2017 in “Dermatology online journal” Dermoscopy helped diagnose a rare hair disorder in a 2-year-old boy.