August 2025 in “Rare Metals” Metformin/dopamine-derived carbon dots help heal bacteria-infected wounds faster.
January 2025 in “Genetics in Medicine Open” Biotinidase deficiency can mimic neuromyelitis optica and should be considered for accurate diagnosis and treatment.
March 2011 in “Open Archive (Karolinska Institutet)” The mouse model showed defects in adult stem cell maintenance related to Hutchinson-Gilford progeria syndrome.
June 2010 in “Chinese Journal of Dermatology” A new gene mutation is linked to monilethrix in the studied family.
11 citations
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December 2013 in “Clinical and experimental dermatology” A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.
3 citations
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December 2020 in “Scientific reports” Mitochondrial problems in tooth cells lead to bad enamel and dentin development in mice.
149 citations
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June 2010 in “The FASEB journal” miR-31 regulates hair growth by controlling gene expression in hair follicles.
36 citations
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March 2014 in “Cell death and differentiation” Disrupting β-catenin signaling in certain cells causes anorectal malformations.
42 citations
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May 2013 in “Oral Diseases” Kennedy's disease leads to muscle weakness without a cure, but exercise and managing symptoms may help patients live a normal lifespan.
May 2024 in “International journal of medicine and psychology.” Monoclonal antibodies LT-1, LT-2, and LT-7 help diagnose certain blood cancers.
Newly designed proteins can effectively degrade specific proteins in cells, offering a potential new therapy method.
Loss of Dnmt3a and Dnmt3b leads to more aggressive skin tumors, but blocking PPAR-γ can reduce this effect.
November 2025 in “Indian Journal of Dermatology” Early diagnosis and multidisciplinary care are crucial for improving the quality of life in patients with ectodermal dysplasia.
35 citations
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August 2006 in “Molecular genetics and metabolism” Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.
2 citations
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May 2021 in “Neuropathology & applied neurobiology/Neuropathology and applied neurobiology” Correct diagnosis and treatment are crucial for effective management of lipid storage myopathies.
CaBP1 and 2 are important for maintaining the activity of calcium channels necessary for hearing in inner ear cells.
August 2024 in “Food Bioscience” Bifidobacterium longum BB536 metabolites may help treat hair loss by repairing and promoting hair cell growth.
5 citations
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May 2011 in “European Journal of Medical Genetics” A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.
September 2012 in “대한피부과학회지” Desmocollin 1 helps maintain skin structure during fetal development.
4 citations
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May 2025 in “Cells” miR-370-3p slows sheep hair cell growth by blocking SMAD4.
10 citations
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March 2015 in “Journal of dermatology” The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
57 citations
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January 2013 in “International Journal of Medical Sciences” Lef1 helps stem cells become hair cells by interacting with specific signaling pathways.
79 citations
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June 1991 in “Journal of Medical Genetics” X-linked mental retardation includes various syndromes with both mental and physical abnormalities.
June 2021 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” The skin basement membrane is specialized for different tissue interactions, important for hair growth and attachment.
1 citations
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January 2025 in “Regenerative Biomaterials” Exosomes from Pinctada martensii mucus can safely reduce melanin production, offering a new treatment for skin pigment issues.
April 2024 in “Anais Brasileiros de Dermatologia” 48 citations
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June 2000 in “Japanese Journal of Cancer Research” Dimethylarsinic acid speeds up skin tumor growth in certain mice.
32 citations
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February 2008 in “Developmental dynamics” Mice without the Sp6 gene have problems developing several body parts, including hair, teeth, limbs, and lungs.
1 citations
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January 2015 in “The Journal of Dermatology” Genetic testing is crucial for diagnosing and managing non-Herlitz junctional epidermolysis bullosa.
22 citations
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April 2012 in “The American journal of pathology” Loss of Msx2 function causes eye development issues similar to Peters anomaly.