21 citations
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October 2017 in “Cell death and disease” Sesn2 protects inner ear hair cells from damage by regulating certain cell survival pathways.
December 2013 in “Appetite” A defective gene causes hair loss and taste insensitivity in BTBR mice.
112 citations
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August 2012 in “The American Journal of Human Genetics” Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
July 2012 in “European journal of cancer” MPA increases cancer spread by boosting Eph A2 activity.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” A girl with excessive hair growth had a genetic change on chromosome 17 that reduced the activity of two genes linked to hair growth.
November 2024 in “NeoReviews” Pallister-Killian Syndrome is a complex genetic disorder requiring coordinated care and genetic counseling.
43 citations
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April 2010 in “Clinical genetics” Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.
165 citations
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September 2001 in “Genes & development” CDP is crucial for lung and hair follicle cell development.
3 citations
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January 2011 in “生物医学研究杂志:英文版” A new mutation in the KRT86 gene causes monilethrix in a Han family.
April 2017 in “Journal of Investigative Dermatology” PRC1 influences skin stem cell development by both turning genes on and off, affecting hair growth and skin cell types.
26 citations
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May 2016 in “Journal of biological chemistry/The Journal of biological chemistry” sPLA2-IIE is crucial for normal hair follicle structure and skin health.
Genetic factors in PCOS are complex, with potential influences from the MC4R gene.
26 citations
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March 1995 in “Differentiation” A rabbit gene important for hair development was identified and detailed.
133 citations
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June 1993 in “Molecular and Cellular Biology” The human K5 promoter controls specific gene expression in skin cells, with key regulatory elements near the TATA box.
January 2002 in “Agritrop (Cirad)” The hr gene is linked to hair loss in Valle del Belice sheep.
75 citations
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January 2004 in “Molecular and Cellular Biology” XEDAR deficiency prevents muscle degeneration in EDA-A2 transgenic mice.
29 citations
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January 1996 in “The Journal of Clinical Endocrinology & Metabolism” A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.
CaBP1 and 2 are necessary for maintaining calcium currents and hearing in inner ear cells.
65 citations
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February 2018 in “The Plant Journal” PLDζ2 and NPC4 have different roles in lipid changes and root hair growth in Arabidopsis under low phosphate, with PLDζ2 reducing root hair growth and NPC4 promoting it.
280 citations
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January 2004 in “The EMBO Journal” AGC2-1 protein is essential for root hair growth in Arabidopsis.
2 citations
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June 2020 in “Research Square (Research Square)” A prostate cancer drug can lower the levels of a protein that the coronavirus uses to enter lung cells.
8 citations
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March 2011 in “Endocrine” A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.
45 citations
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November 2012 The conclusion is that androgen receptor gene polymorphism might be a marker for polycystic ovary syndrome, but more research is needed.
47 citations
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January 1998 in “Molecular Carcinogenesis” ErbB2 signaling is crucial for skin cell growth and cancer development in mice.
May 2024 in “Scientific reports” Twist2 is essential for scarless skin healing and hair growth in mouse fetuses.
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August 2000 in “Experimental Cell Research” 9 citations
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May 2019 in “Medicine” The C-allele and CC-genotype in the PTPN22 gene lower the risk of alopecia areata.
29 citations
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June 2016 in “Experimental Dermatology” MCHR2 gene duplications may be linked to alopecia areata.
37 citations
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August 2014 in “Journal of experimental botany” A gene in Arabidopsis thaliana, AtPRPL1, affects root hair length but not cell wall composition.
72 citations
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November 2012 in “PloS one” The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.