A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.
19 citations
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May 2004 in “The American Journal of Dermatopathology” The research found that a specific gene mutation causes fewer hair follicles and disrupted hair growth cycles, leading to thin and short hair in people with Hypotrichosis with Juvenile Macular Dystrophy.
1 citations
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March 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Skin cell types develop when specific genes are turned on by removing certain chemical tags from DNA.
10 citations
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May 2020 in “Frontiers in cell and developmental biology” MicroRNAs are important for hair growth regulation, with Dicer being crucial and Tarbp2 less significant.
13 citations
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October 2016 in “Acta Biochimica et Biophysica Sinica” GhPLDα1 helps thicken cotton fiber walls by boosting cellulose production.
4 citations
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January 2001 in “Archives of Biochemistry and Biophysics” Activated ras can protect kidney cells from a certain substance that causes cell death.
87 citations
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January 2017 in “PLoS Genetics” Removing both KLK5 and KLK7 proteins can prevent death and skin issues in Netherton syndrome.
August 2019 in “Carolina Digital Repository (University of North Carolina at Chapel Hill)” DHT enhances androgen receptor activity more than testosterone, and MAGE-11 influences this activity through specific interactions.
32 citations
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May 2012 in “PloS one” Thymic transplantation normalized some T-cells but not others, maintaining immune function.
7 citations
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August 2017 in “European journal of endocrinology” Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.
21 citations
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March 2018 in “American Journal Of Pathology” Mutations in NIPAL4 cause skin issues by disrupting lipid layers, but some improvement is seen with topical treatment.
April 2026 in “Development” Hemidesmosomes and Notch signaling help skin cells mature by moving them to the outer layer.
September 2016 in “Journal of Dermatological Science” Certain gene mutations in Japanese people are linked to different types of hair loss, with some causing mild hair thinning and others leading to complete baldness.
19 citations
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March 2022 in “Molecular therapy. Nucleic acids” A specific RNA, circNlgn, contributes to heart damage and scarring caused by the cancer drug doxorubicin.
July 2025 in “Journal of Investigative Dermatology” Wnt and SHH pathways help form hair follicles by coordinating cell processes.
39 citations
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July 1997 in “American Journal of Medical Genetics” The gene for Clouston syndrome in a large Indian family is located in the 13q11-q12.1 region.
12 citations
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January 2013 in “Indian dermatology online journal” Dermatopathia pigmentosa reticularis causes skin discoloration, hair loss, and nail problems.
5 citations
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December 2020 in “Gene” ANXA1 influences hair growth in mice through the EGF signaling pathway.
92 citations
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September 2013 in “Journal of Investigative Dermatology” BMAL1 and Period1 genes can influence human hair growth.
4 citations
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October 2021 in “Journal of Clinical Medicine” Carriers of a specific gene mutation have subtle skin changes without visible symptoms.
50 citations
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September 2014 in “Stem cell reports” BLIMP1 is essential for skin maintenance but not for defining sebaceous gland progenitors.
1 citations
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November 2023 in “International Journal of Molecular Sciences” SOX18 helps sheep hair cells grow by activating a specific cell growth pathway.
70 citations
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April 2014 in “Annales d'endocrinologie” New genes and pathways are important for testosterone production and male sexual development.
17 citations
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July 2013 in “Amino Acids” Increased ODC activity leads to skin tumors by recruiting stem cells, not by toxic byproducts.
5 citations
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November 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” Wnt/β-catenin signaling is important for keeping skin cell attachment structures stable.
1 citations
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February 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Certain interactions help prepare the androgen receptor for pairing and activation, which is important for its role in development and disease.
September 2019 in “Journal of Investigative Dermatology” Targeted therapy with Ustekinumab significantly improved a skin condition called ILVEN, which is caused by mutations in the CARD14 gene.
15 citations
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June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” Mice with extra human KLK14 had hair and skin problems, including weaker cell bonds and inflammation, linked to Netherton syndrome.
1 citations
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May 2023 in “Biochemical and Biophysical Research Communications” Blocking DKK1 with siRNA can improve hair growth.