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.
May 2022 in “Experimental dermatology” Trichothiodystrophy hair is structurally abnormal with protein and organization issues.
The curly mutation in SELH/Bc mice affects hair and may help study human genetic disorders.
April 2025 in “Journal of Diabetes & Metabolic Disorders” Monitoring TGF-β and linc-PINT expression may help identify and treat high-risk heart arrhythmia patients.
2 citations
,
February 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Impaired LEF1 activation speeds up skin cell development in Hutchinson-Gilford Progeria Syndrome.
7 citations
,
November 2010 in “Genesis” Mouse Scube3 affects teeth, tongue, vibrissae, and eye development, but not facial structure or limb growth.
117 citations
,
August 1999 in “Nature Genetics”
September 2022 in “Medical Mycology” Three different methods were compared for creating Titan cells, a type of fungus cell. The OZ method made the most cells initially, but the number dropped quickly. The EB method also made a lot of cells, but the number also dropped. The AA method made fewer cells, but the number stayed steady. The methods also affected which genes were active in the cells.
89 citations
,
March 1996 in “Proceedings of the National Academy of Sciences” CD18-deficient mice developed psoriasis-like skin disease, useful for studying inflammatory skin disorders.
44 citations
,
April 2013 in “Proceedings of the National Academy of Sciences of the United States of America” FGF13 gene changes cause excessive hair growth in a rare condition.
6 citations
,
January 2014 in “Genetics and Molecular Research” The method successfully created stable transfection donor cells for goat hair follicle research.
81 citations
,
November 2012 in “Journal of the National Cancer Institute” The tumor suppressor gene FLCN affects mitochondrial function and energy use in cells.
288 citations
,
January 2001 in “Journal of Biological Chemistry” Tgm2 helps stabilize dying cells and aids fibroblast attachment to the extracellular matrix.
September 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” The mTurq2-Col4a1 mouse model shows that cells can divide while attached to stable basement membranes during development.
13 citations
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June 2014 in “Molecular therapy” The lentiviral array can monitor and predict gene activity during stem cell differentiation.
11 citations
,
November 2011 in “The Journal of Dermatology” Connexin-26 gene mutations may increase cancer risk in KID syndrome patients.
50 citations
,
February 2007 in “The Journal of Pathology” Somatic BHD mutations are rare in Japanese renal tumors.
3 citations
,
March 2025 in “Science Advances” A specific DNA duplication in Polish chickens affects feather shape by altering gene expression.
40 citations
,
March 2019 in “Nature Communications” CRAC channels are crucial for the development and function of specialized immune cells, preventing severe inflammation and autoimmune diseases.
17 citations
,
August 2012 in “Journal of Medical Genetics” A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.
6 citations
,
April 2024 in “Journal of Investigative Dermatology” CRISPR-based tools improve understanding and treatment of skin development and conditions.
May 2026 in “Signal Transduction and Targeted Therapy” BMP signaling is essential for forming skin structures called rete ridges, aiding skin thickness and regeneration.
12 citations
,
January 1987 in “Carcinogenesis” TCDD changes skin cell growth and keratin production in mice.
August 2012 in “Nature Cell Biology” The tumor suppressor BRCA2 helps in cell division by bringing key proteins to the area where cells split.
February 2024 in “Future science OA” Loss of the Y chromosome and UTY gene activity increases cancer risk in men.
17 citations
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January 2019 in “International journal of biological sciences” Researchers used CRISPR/Cas9 to create a goat with a gene that increased cashmere production by 74.5% without affecting quality.
November 2022 in “Journal of Investigative Dermatology” Low oxygen levels affect the behavior of certain proteins in human skin cells.
7 citations
,
March 2022 in “The FASEB journal” Adult mice with CBS deficiency show minimal health issues and normal lifespan despite high homocysteine levels.
57 citations
,
January 2013 in “International Journal of Medical Sciences” Lef1 helps stem cells become hair cells by interacting with specific signaling pathways.
The scant hair in snthr-1Bao mice is likely caused by a deletion affecting the Plcd1 gene.