April 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” CTCF protein is essential for skin and hair follicle development in mice.
April 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” RPGRIP1L helps skin cells stick together by blocking PKCβII, which can prevent skin blistering like in pemphigus.
27 citations
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June 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” The study found that variations in hair protein genes are likely due to evolutionary deletions or duplications.
January 2008 in “Memorial University Research Repository (Memorial University)” Pygopus 2 helps ovarian cancer cells grow by aiding ribosomal RNA production, independent of Wnt signaling.
13 citations
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June 2012 in “European journal of medical genetics” Identical twins had different symptoms because one had more cells with an extra chromosome fragment in different tissues.
88 citations
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August 2014 in “PLOS genetics” Syndecan-1 is essential for maintaining skin fat and preventing cold stress.
199 citations
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April 2010 in “Nature” A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.
305 citations
,
March 2008 in “AJP Endocrinology and Metabolism” SSAT is a key enzyme affecting cell growth and metabolism, with potential but risky use in disease treatment.
1 citations
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May 2015 in “Experimental Dermatology” Overactive Stat3 in mouse skin causes hair loss and cell structure damage.
13 citations
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December 2005 in “Traffic” Syntaxin 9 helps in transporting and signaling of the EGF receptor in skin and stomach cells.
119 citations
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November 2016 in “American journal of human genetics” Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.
October 2007 in “Clinical Biochemistry” New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.
Skin tumor cells in patients with tuberous sclerosis have higher levels of a protein called cathepsin B.
February 1989 in “PubMed” A genetic hair protein variant is more common in Japanese people and is inherited.
100 citations
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December 2002 in “Journal of biological chemistry/The Journal of biological chemistry” Researchers mapped and categorized specific keratin-associated protein genes on human chromosome 21q22.1.
18 citations
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December 2002 in “European Journal of Biochemistry” MsPG3 protein gathers at root hair tips, aiding growth.
166 citations
,
September 2011 in “The Journal of Cell Biology” p63 controls Satb1 to help skin develop properly.
15 citations
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November 2012 in “Archives of Ophthalmology” A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.
33 citations
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June 2007 in “Gene Expression Patterns” CTIP2 may help in skin development and maintenance.
May 2017 in “bioRxiv (Cold Spring Harbor Laboratory)” The peach gene pCTG134 helps control the interaction between auxin and ethylene hormones during fruit ripening.
October 2024 in “SPIRE - Sciences Po Institutional REpository” Sox13 is a marker for early hair follicle development but not essential for skin and hair growth.
A new genetic mutation was found causing hair and eye issues in a boy.
35 citations
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December 2017 in “Journal of Experimental Botany” AtCSLD3 and GhCSLD3 genes enhance root growth and cell elongation in plants.
November 2024 in “Journal of Investigative Dermatology” Blocking the JAK/STAT pathway may help reduce skin sensitivity in Xeroderma pigmentosum.
6 citations
,
January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
79 citations
,
October 2003 in “PubMed” Overexpression of PKCepsilon leads to increased TNFalpha, promoting metastatic squamous cell carcinoma in mice.
67 citations
,
May 2019 in “British Journal of Dermatology” People with mycosis fungoides/Sézary syndrome have a much lower quality of life.
44 citations
,
June 2017 in “The EMBO Journal” LPA3 signaling in the uterus is crucial for placental formation and fetal development.
1 citations
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April 2018 in “Journal of Investigative Dermatology” The Trichodysplasia spinulosa virus protein can cause abnormal hair growth in mice.