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July 2023 in “Cells” MG53 helps reduce skin damage caused by nitrogen mustard.
39 citations
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January 2015 in “Annals of dermatology/Annals of Dermatology” Three new types of a skin blistering disease were found, caused by specific gene mutations.
July 2023 in “Media Dermato Venereologica Indonesiana” Accurate diagnosis of RDEB-mitis in older adults is crucial for proper management without immunosuppressants.
ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
10 citations
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September 1997 in “Molecular carcinogenesis” Mirex seems to promote a unique group of skin cells different from those affected by another tumor promoter, TPA.
April 2018 in “Journal of Investigative Dermatology” BMP signaling is important for skin color, affecting melanin production, pigment spread, and cell movement.
16 citations
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April 2021 in “Plant Signaling & Behavior” MYB30 and EIN3 work against each other to control root hair growth and phosphorus uptake in plants when phosphate is low.
April 2020 in “Journal of the Endocrine Society” A patient with myotonic dystrophy had several autoimmune disorders and thyroid cancer, suggesting a possible link between these conditions.
14 citations
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June 2021 in “British Journal of Dermatology” The BIOMAP glossary standardizes data to improve research on atopic dermatitis and psoriasis.
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April 2025 in “American Journal of Medical Genetics Part C Seminars in Medical Genetics” Eflornithine improved symptoms in Bachmann–Bupp Syndrome patients.
60 citations
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September 2023 in “Science” BTNL proteins help control inflammatory bowel disease by maintaining specific immune cells.
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December 2005 in “Journal of Investigative Dermatology” Certain genetic markers, especially the MICA gene, are linked to alopecia areata.
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May 2015 in “JAMA Dermatology” Early detection of specific skin lesions can help identify Birt-Hogg-Dube syndrome and prevent serious complications.
July 2025 in “Journal of Investigative Dermatology” Nelfb is essential for dermal fat development and survival.
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June 1998 in “Molecular cell” Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
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May 2013 in “Journal of Investigative Dermatology” Mutations in β1 integrins cause embryonic death but have milder effects on skin.
A new genetic mutation was found causing hair and eye issues in a boy.
51 citations
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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.
May 2010 in “Europe PMC (PubMed Central)” Near-infrared probes can safely and effectively image cysteine protease activity for disease diagnosis.
TBX3 gene affects horse coat color, with higher expression in darker areas.
86 citations
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January 1990 in “The Journal of Pediatrics” Children with partial biotinidase deficiency are healthy at birth but may develop symptoms that improve with biotin therapy.
December 1963 in “Medical Entomology and Zoology” Wnt1a from stem cells boosts hair growth and regeneration in mice.
April 2017 in “Journal of Investigative Dermatology” A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
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February 2020 in “Clinical and Experimental Dermatology” Both HLA-B and MICA are independently linked to alopecia areata.
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August 1987 in “The Journal of Dermatology” BKN-1 antibody targets specific keratin in basal cell epithelioma and normal skin basal cells.
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March 1994 in “Journal of Heredity” A mutation in mice causes hair loss and immune problems.
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September 2001 in “Genes & development” CDP is crucial for lung and hair follicle cell development.
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June 2020 in “Medicine” A patient with a rare disease had a unique genetic mutation linked to their symptoms.
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December 2020 in “PLoS ONE” Genetic factors influence growth and brain development in children.
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February 2006 in “Clinical Cancer Research” Mitf plays a key role in melanoma progression and is linked to disease stage.