July 2017 in “ORTHOPAEDICS TRAUMATOLOGY and PROSTHETICS” Managing rare genetic diseases like osteogenesis imperfecta and Escobar syndrome is complex and requires both medical and surgical treatments.
3 citations
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November 2022 in “Molecules/Molecules online/Molecules annual” The substances improved hair regrowth and protected hair cells in humans and mice.
April 2023 in “Journal of Investigative Dermatology” Changing YBX1 protein activity affects skin stem cell function and aging.
23 citations
,
August 2018 in “Biochimica and biophysica acta. Molecular and cell biology of lipids” Different sPLA2 enzymes affect immunity, skin and hair health, reproduction, and may be potential targets for therapy.
September 2024 in “Journal of Medicine and Life” A specific gene mutation causes a severe skin disorder in a family.
4 citations
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April 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” The improved genome of the African spiny mouse helps study its tissue regeneration.
3 citations
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July 2022 in “Brain and Behavior” The HtrA1L364P mutation causes brain dysfunction and blood vessel damage.
April 2017 in “Journal of Investigative Dermatology” Deep phenotyping helps distinguish between xeroderma pigmentosum and trichothiodystrophy, aiding in diagnosis and treatment.
9 citations
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September 2013 in “Journal of Applied Animal Research” The genetic variation in the KAP13-3 gene may affect cashmere fiber traits in Liaoning goats.
138 citations
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November 2015 in “Journal of Pharmacology and Experimental Therapeutics” Protoporphyrin IX is useful in cancer treatment but can cause health problems if not properly regulated.
28 citations
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June 2007 in “Journal of Cutaneous Pathology” IRS premature desquamation is not unique to CCCA and occurs in various scarring alopecias.
5 citations
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November 2021 in “Saudi medical journal” The document reports three sisters with Woodhouse-Sakati syndrome showing typical symptoms and unusual gynecological anomalies.
2 citations
,
October 2012 in “Experimental Dermatology” Deleting the Sox21 gene changes hair lipid composition and increases cholesterol sulfate levels.
15 citations
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October 2015 in “PLOS ONE” The Chinese version of the PCOS quality of life questionnaire is reliable and valid for Chinese-speaking women with PCOS.
22 citations
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January 2018 in “Experimental Dermatology” The meeting focused on understanding, diagnosing, and finding treatments for irreversible hair loss diseases.
13 citations
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June 2006 in “Pituitary” A woman with acromegaloidism and normal growth hormone levels had a rare X-Tetrasomy, suggesting a need to study X-chromosome genes for their role in growth and facial development.
January 2023 in “Advances in reproductive sciences” Higher levels of the protein Pannexin-1 may play a role in hair loss in women with PCOS.
Ubiquitination of the insulin receptor regulates collagen secretion in human skin.
51 citations
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February 2004 in “Journal of Investigative Dermatology” MCSP may help identify and regulate skin stem cells, affecting hair growth and regeneration.
January 2025 in “bioRxiv (Cold Spring Harbor Laboratory)” Potential therapeutic targets for scarring hair loss are identified.
12 citations
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August 2019 in “BMC Medical Genetics” Certain MC4R gene variants are linked to higher BMI in obese women with PCOS but do not cause PCOS.
4 citations
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December 2016 in “Blood” A new gene mutation may cause cyclic thrombocytopenia by affecting platelet production.
February 2026 in “Chemical Engineering Journal” PCA hydrogel promotes hair growth by enhancing blood vessel formation and hair follicle stem cell activity.
April 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” MPZL3 is crucial for seborrheic dermatitis development.
September 2022 in “Indian Journal of Paediatric Dermatology” Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.
7 citations
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March 2011 in “Hormone and Metabolic Research” Certain gene variations might help protect against insulin resistance and glucose intolerance in people with Polycystic Ovary Syndrome.
2 citations
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January 2014 in “The Korean journal of medicine” The 2012 SLICC criteria provide an updated method for classifying Systemic Lupus Erythematosus.
169 citations
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June 2010 in “Molecular & cellular proteomics” Pectin biosynthesis is essential for the growth of cotton fibers and Arabidopsis root hairs.
7 citations
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January 2018 in “Neurodegenerative Diseases” Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.
March 2024 in “Indian Journal of Dermatology” The man was diagnosed with Cronkhite-Canada syndrome, a rare disorder with GI polyps, skin issues, hair loss, and nail problems.