79 citations
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March 2005 in “Journal of Medical Genetics” A mutation in the hHb3 gene is linked to the hair disorder monilethrix.
September 2006 in “Experimental Dermatology” Targeting multiple pathways and understanding genetic mutations are crucial for effective melanoma therapy.
Sox13 is a marker for early hair follicle development but not essential for skin and hair growth.
18 citations
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February 2001 in “Der Hautarzt” A woman with myotonic dystrophy had multiple skin tumors on her scalp, suggesting a genetic link.
November 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Removing MCPIP1 from myeloid cells in mice leads to hair loss and prevents skin tumors but causes pigmented spots.
36 citations
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July 1996 in “The journal of investigative dermatology/Journal of investigative dermatology” Mice with the 'lanceolate hair' mutation have abnormal hair and skin similar to human Netherton's syndrome.
37 citations
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January 2006 in “Carcinogenesis” Antizyme slows skin tumor growth by reducing cell growth in mice.
6 citations
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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.
28 citations
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November 2018 in “Journal of Cellular and Molecular Medicine” CXXC5 is a protein that controls cell growth and healing processes, and changes in its activity can lead to diseases like cancer and hair loss.
January 2012 in “ScholarlyCommons (University of Pennsylvania)” miRNAs are crucial for hair growth and skin health.
34 citations
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May 2001 in “Endocrinology” Mrp3 helps in wound healing and hair growth.
2 citations
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April 2008 in “PubMed” A gene mutation causes monilethrix in a Chinese family.
1 citations
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October 1988 in “Clinics in Dermatology” Scientists identified and cloned specific keratin proteins in mouse hair.
ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
19 citations
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May 2001 in “Endocrinology” Mrp3 may aid in wound healing and hair growth.
1 citations
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July 2017 in “Cancer Research” Overexpressing NSD3 in mice causes breast cancer-like tumors and gland abnormalities.
August 2024 in “American Journal of Medical Genetics Part A” Variants in the CCDC47 gene are linked to trichohepatoneurodevelopmental syndrome.
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July 2004 in “Journal of Biological Chemistry” Overexpressing SSAT enzyme reduces prostate tumor growth in mice.
227 citations
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January 1998 in “Journal of biological chemistry/The Journal of biological chemistry” Mutations at Val-889 and Arg-752 disrupt key interactions in the androgen receptor, affecting its function.
147 citations
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August 2005 in “The Plant Cell” The TIP1 gene is crucial for normal plant cell growth in Arabidopsis.
6 citations
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May 2016 in “Experimental Dermatology” The type of tumor suppressor gene lost affects the behavior of skin cancer.
October 2025 in “Clinical and Experimental Pediatrics” A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.
56 citations
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March 2015 in “Journal of Investigative Dermatology” Healthy mitochondria in skin cells are essential for proper hair growth and skin cell interaction in mice.
28 citations
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December 1997 in “Journal of Biological Chemistry” A genetic mutation in the hHa1 gene creates a smaller, but still functional, hair protein without causing hair problems.
MFN2 mutations cause mitochondrial problems, unusual fat distribution, and low leptin despite high body fat.
10 citations
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January 1997 in “Dermatology” Two siblings were diagnosed with Trichothiodystrophy, identified by brittle hair and low sulfur content.
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December 2016 in “Revista română de medicină de laborator” The NIPAL4 mutation c.527C>A is common in Romanian patients with autosomal recessive congenital ichthyosis.
1 citations
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January 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Dicer is crucial for hair growth in mice.
288 citations
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January 2001 in “Journal of Biological Chemistry” Tgm2 helps stabilize dying cells and aids fibroblast attachment to the extracellular matrix.
6 citations
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September 2015 in “Journal of Investigative Dermatology” Using special RNA to target a mutant gene fixed hair problems in mice.