11 citations
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April 2019 in “Bioscience Reports” Certain genetic variations in the RAB5B gene are linked to a higher risk of polycystic ovary syndrome in Chinese Han women.
97 citations
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March 2002 in “Molecular and cellular biology” Mutant CDP/Cux protein causes hair defects and reduced male fertility in mice.
3 citations
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February 2020 in “The journal of gene medicine” A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.
April 2010 in “Cancer Research” Stat3 activation increases hair follicle progenitors but reduces bulge region stem cells.
1 citations
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February 2023 in “Frontiers in Endocrinology” Childhood growth hormone deficiency can be accurately diagnosed using gene expression data and random forest analysis.
July 2005 in “The American Journal of Human Genetics” The AR gene is linked to male-pattern baldness, TNFSF4 to heart disease, SLC19A3 to BBGD, MCT8 to a syndrome, and segmental duplications to genetic variation.
November 2022 in “Journal of the Endocrine Society” A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.
9 citations
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August 2013 in “Archives of Dermatological Research” A gene called BMAL1 plays a role in controlling hair growth.
126 citations
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October 1998 in “Experimental Dermatology” The hr gene is crucial for skin and hair health, with mutations causing hair disorders.
12 citations
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December 2020 in “Archives animal breeding/Archiv für Tierzucht” EDA and EDAR are important for hair follicle development in cashmere goats and affect other related genes.
March 2024 in “Plant physiology” GLABRA 2 controls ethylene production to help root hair growth during nutrient deficiency.
25 citations
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November 2020 in “Proceedings of the National Academy of Sciences” HoxC genes are crucial for normal hair and nail development.
March 2009 in “Encyclopedia of Life Sciences” Mutations in keratin genes cause skin disorders, but new treatments show promise.
449 citations
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December 2005 in “The Plant Cell” BIK1 gene helps plants resist some pathogens but makes them more vulnerable to others.
BLTP1 and KIF27 gene mutations can help breed better wool sheep.
4 citations
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March 2024 in “Journal of Investigative Dermatology” SPRY1 deficiency in skin cells causes stem cells to move to the skin surface, leading to increased pigmentation.
5 citations
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June 2017 in “in Vivo” Vitamin C deficiency changes gene expression, affecting skin and hair health.
January 2023 in “European journal of gynaecological oncology” KRT17 may be a new target for endometrial cancer treatment because it helps cancer cells move and form new blood vessels.
April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific mutation in the TRPV3 gene causes hair follicle cells to develop improperly, leading to hair loss.
1 citations
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March 2023 in “Science Translational Medicine” Blocking a certain signal in the gp130 receptor can improve tissue healing and lessen osteoarthritis symptoms.
14 citations
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January 2015 in “Genetics and molecular research” The transition from growth to regression in Cashmere goat hair follicles involves changes in expression of genes related to keratin and cell differentiation.
March 2025 in “International Journal of Molecular Sciences” The study created a mouse model to better understand hair follicle stem cells' role in hair growth and repair.
441 citations
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May 1996 in “Journal of Cell Science” Keratin 19 helps identify skin stem cells, with its presence varying by body location, age, and culture stage.
September 2022 in “Indian Journal of Paediatric Dermatology” Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.
19 citations
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September 1971 in “Journal of Investigative Dermatology” 38 citations
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May 1971 in “Clinical genetics” A specific metabolite, not a receptor protein, triggers the production of certain kidney enzymes, but this process is disrupted in mice with a mutation causing testicular feminization.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.
8 citations
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June 2009 in “British Journal of Dermatology” Human melanocytes in skin and hair follicles don't express keratin 16 or 6 naturally.
8 citations
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January 2022 in “BMC Biology” Environmental factors affect reproductive traits by altering the SRD5A1 gene.
14 citations
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July 2019 in “Journal of Investigative Dermatology” Integrin-linked kinase is crucial for melanoblasts to properly colonize the skin.