178 citations
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May 2006 in “Developmental Dynamics” Jumonji genes are important for development and their mutations can cause abnormalities, especially in the heart and brain.
8 citations
,
September 2024 in “BMC Genomics” circCFAP20DC helps goat ovarian cells grow, aiding follicle development.
5 citations
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October 2021 in “American Journal of Medical Genetics Part A” A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.
124 citations
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September 1992 in “Endocrinology” The human type II 5α-reductase gene, linked to certain male health conditions, has a specific structure and low similarity to other related genes.
98 citations
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March 2019 in “Frontiers in immunology” Damaging mutations in NFKB2 cause a severe and distinct form of primary immunodeficiency with early-onset and often ACTH-deficiency.
November 2022 in “Journal of Investigative Dermatology” The research found specific genes that are more active in balding cells, which could be causing hair loss.
11 citations
,
December 2013 in “Clinical and experimental dermatology” A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.
The curly mutation in SELH/Bc mice affects hair and may help study human genetic disorders.
August 2012 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” FGF18 controls hair cycle rest and growth phases.
14 citations
,
October 2000 in “Genomics” Rat dermal papilla cells have unique genes crucial for hair growth.
April 2018 in “Journal of Investigative Dermatology” NDRG1 protein helps infantile hemangioma, a common infant tumor, to grow, and its mismanagement by FOXO1 protein plays a big role in causing the tumor.
141 citations
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February 1988 in “Molecular and Cellular Biology” Only one K16 gene on chromosome 17 makes a functional keratin protein.
43 citations
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December 2008 in “Molecular biology of the cell” Disrupting Smad4 in mouse skin causes early hair follicle stem cell activity that leads to their eventual depletion.
415 citations
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January 2008 in “Cell” NFATc1 controls hair stem cell activity, affecting hair growth and could be a target for hair loss treatments.
29 citations
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June 2015 in “Kidney International” Disrupting the Flcn gene in mice causes early kidney cysts and tumors, which can be treated with rapamycin.
January 2011 in “Journal of Human Genetics” A Japanese patient with a rare genetic disorder had a less severe case than others, suggesting other factors may affect symptoms.
January 2009 in “China Practical Medicine” Certain genes help dermal papillae cells in hair follicles grow and group together.
April 2018 in “Journal of Investigative Dermatology” CREB, a protein that can promote cancer traits, is controlled by β-catenin in skin cancer cells.
53 citations
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September 2013 in “Journal of Investigative Dermatology” Hair follicle cells help protect against immune attacks by regulating T-cell activity.
6 citations
,
October 1998 in “Experimental Dermatology” Normal skin results from interactions between EGF and the Tabby mutation.
73 citations
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December 2015 in “Nature Genetics” Mutations in TBX3 cause horses to have more even hair color instead of Dun camouflage.
179 citations
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December 2004 in “Journal of The American Academy of Dermatology” Some postmenopausal women with frontal fibrosing alopecia stopped losing hair with finasteride treatment, hinting at a possible hormonal cause.
January 2020 in “Medical journal of clinical trials & case studies” A 37-year-old male with severe skin and internal issues has a rare inherited skin condition called dystrophic epidermolysis bullosa.
June 2020 in “Zenodo (CERN European Organization for Nuclear Research)” The DNMT3B -579G>T polymorphism may increase the risk of colorectal cancer.
20 citations
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February 2019 in “Genes” The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.
7 citations
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January 2019 in “PeerJ” A protein called sFRP4 can slow down hair regrowth.
2 citations
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July 2024 in “International Journal of Molecular Sciences” Csdc2 helps hair growth in cashmere goats by regulating specific genes.
17 citations
,
May 2013 in “Journal of Investigative Dermatology” Mutations in β1 integrins cause embryonic death but have milder effects on skin.
4 citations
,
February 2023 in “International Journal of Stem Cells” The FTO gene hinders stem cells in hair follicles from becoming pigment cells.