354 citations
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February 2011 in “Genes & Development” EZH1 and EZH2 are crucial for healthy hair growth and skin repair.
14 citations
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February 2018 in “Psychoneuroendocrinology” Mice lacking steroid 5α-reductase 2 show less aggression and better impulse control.
7 citations
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January 2015 in “Case reports in genetics” Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
October 2024 in “Journal of the Endocrine Society” Misdiagnosis led to unnecessary treatment due to a genetic mutation affecting thyroid hormone resistance.
9 citations
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June 2017 in “American journal of ophthalmology. Case reports” A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
148 citations
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May 2012 in “The American Journal of Human Genetics” Cantú syndrome is caused by mutations in the ABCC9 gene.
March 2026 in “Experimental Dermatology” The new model helps understand and develop treatments for genetic skin disorders like AEC.
14 citations
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January 2011 in “The International Journal of Developmental Biology” Retinoic acid changes skin cells to mucosal cells with goblet cells, needing TG2/Gh, Gbx1, and TGF-beta.
April 2024 in “BMB Reports” Lack of Cisd2 disrupts calcium balance in cells, leading to poorly functioning neutrophils.
38 citations
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February 1988 in “Molecular and Cellular Biology” Only one of the two K16 genes on chromosome 17 makes a functional protein for keratin filaments.
December 2004 in “PLoS ONE” The Foxn1(-/-) phenotype disrupts hair growth and affects skin stem cells.
March 2022 in “Oncology Times” Tebentafusp-tebn improves survival rates in uveal melanoma patients but has common side effects like rash and fatigue.
28 citations
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July 1993 in “The journal of investigative dermatology/Journal of investigative dermatology” 75 citations
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March 1998 in “Journal of Investigative Dermatology” The transgene likely activated an oncogene or interrupted a tumor suppressor gene, causing melanoma in mice.
January 2011 in “Anhui nongye kexue” The vector successfully directed specific gene expression in hair follicles.
208 citations
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November 2000 in “Development” Edar and Eda proteins are crucial for proper tooth development.
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.
91 citations
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June 2011 in “The EMBO Journal” TCF/Lef1 activity is essential for proper skin cell development and renewal.
32 citations
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February 1998 in “The journal of investigative dermatology/Journal of investigative dermatology” Two specific hair keratin genes are active during hair growth and decline as hair transitions to rest.
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June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.
November 2018 in “Atlas of genetics and cytogenetics in oncology and haematology” WNT10B is linked to cancer development and affects survival and disease progression in various cancers.
1 citations
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June 2025 in “Frontiers in Genetics” Key genes IRF2BP2 and EGFR are linked to Hetian sheep's double-coat fleece.
3 citations
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February 2018 in “Experimental and Molecular Medicine/Experimental and molecular medicine” A protein called PCBP2 controls the production of a hair growth protein by interacting with its genetic message and is linked to hair loss when this control is disrupted.
6 citations
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January 2025 in “Differentiation” WNT10A is important for tissue development and linked to various human disorders.
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May 2017 in “IUBMB life” Astrotactin proteins are important for brain and skin development and are linked to several neurodevelopmental disorders.
3 citations
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October 1994 in “Journal of Dermatological Science” The new antibody, TYHF-1, specifically targets certain hair-related structures.
17 citations
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July 2022 in “BMC Genomics” The FA2H gene improves cashmere fineness by enhancing hair growth in goats.
October 2024 in “Frontiers in Oncology” A new gene mutation linked to Olmsted syndrome may increase cancer risk, suggesting the need for ongoing patient monitoring.
February 2023 in “Journal of Plant Physiology”