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June 2021 in “Medicina” Combined light therapy improves eye health and quality of life for those with meibomian gland dysfunction.
December 2024 in “Livers” Recognizing rare causes of MASLD is crucial for effective treatment and preventing complications.
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January 2017 in “Acta Dermato Venereologica” Lipid-antigen stimulation may play a role in folliculotropic mycosis fungoides.
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August 1998 in “Developmental Biology” Deleting part of a gene in mice causes wavy hair and high pup loss.
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August 1999 in “Mechanisms of Development” Pmg-1 and Pmg-2 are new genes important for skin and mammary gland development.
April 2018 in “Journal of Investigative Dermatology” Dsg1 is essential for maintaining a healthy skin barrier in mice.
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December 1988 in “Journal of Investigative Dermatology”
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June 2011 in “Movement Disorders” A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
June 2023 in “International Journal of Research in Medical Sciences” Two brothers from Bangladesh were diagnosed with X-linked adrenoleukodystrophy, showing neurological and adrenal symptoms.
65 citations
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September 2010 in “Journal of the Neurological Sciences” Kennedy's disease leads to muscle weakness and sensory issues, has no cure but manageable symptoms, and future treatments look promising.
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November 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” Preserving and accessing historical research is crucial for ongoing scientific progress.
August 2019 in “Journal of Investigative Dermatology” The study found that tight junctions reach the top layer of the skin's stratum granulosum, not just the second top layer as previously thought.
November 2025 in “Journal of Investigative Dermatology” A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
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January 2013 in “The Journal of Dermatology” Researchers found a new genetic mutation causing a rare hair loss condition in the first Japanese child studied.
January 2020 in “Juntendo Medical Journal” The document's conclusion cannot be determined as the content is not available.
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May 2007 in “Pediatrics in Review” Thorough history and examination are crucial for diagnosing genetic disorders like juvenile polyposis and hypomelanosis of Ito.
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November 2004 in “Hair transplant forum international” The document couldn't be read, so there's no conclusion to summarize.
November 2022 in “Journal of Investigative Dermatology” NCSTN gene mutation causes abnormal skin cell differentiation and more inflammation, contributing to Hidradenitis Suppurativa.
195 citations
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November 2001 in “The Journal of Cell Biology” Desmocollin 1 is essential for strong skin and proper skin function.
July 2024 in “Journal of Investigative Dermatology” CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.
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July 2007 in “Wound Repair and Regeneration” MRL/MpJ mice heal burns slower with more scarring and less tissue regeneration than BALB/c mice.
May 2024 in “Biochemical pharmacology” Blocking CISD1 reduces hearing loss from cisplatin in mice.
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April 2019 in “JAAD case reports” JAK inhibitors helped treat hair loss in two people with Down syndrome.
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July 2007 in “Journal of cell science” Miz1 is essential for proper hair structure and growth.
May 2018 in “European Journal of Dermatology” The first Japanese family with Marie Unna hereditary hypotrichosis showed hair condition improvement in a child and highlighted the risk of misdiagnosis.
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June 2013 in “Journal of Investigative Dermatology” Mice without certain skin proteins had abnormal skin and hair development.
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January 1997 in “PubMed” GABEB is a less severe skin condition caused by a gene mutation affecting collagen, leading to blisters and other symptoms.
March 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” Minoxidil treatment improves heart defects in a DiGeorge syndrome model.
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