PIKFyve is essential for normal platelet function and its deficiency causes organ issues and macrophage infiltration.
The man had myotonia, which caused delayed hand grip relaxation.
September 2017 in “Journal of Investigative Dermatology” LRIG1 protein affects hair growth by regulating skin receptors, leading to hair loss when overexpressed.
ERK activation spreads between cells in mouse skin, linked to cell division and influenced by TPA and EGF receptors.
30 citations
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October 2020 in “Nature Communications” Finasteride irreversibly affects human steroid 5α-reductase 2, providing insight into its catalytic mechanism and disease-related mutations.
10 citations
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March 2015 in “Journal of dermatology” The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
5 citations
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May 2021 in “EMBO journal” Cell polarity signaling controls tissue mechanics and cell fate, with complex interactions and varying pathways across species.
January 2025 in “Turkish Journal of Cerebrovascular Diseases” CARASIL can cause different symptoms even with the same genetic mutation.
January 1999 in “Journal of the European Academy of Dermatology and Venereology” RAPK is a rare skin disorder with pigmented spots, mainly on hands and feet, starting in youth.
84 citations
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September 2008 in “Developmental biology” Retinoic acid-binding proteins in skin are regulated by β-catenin and Notch signalling.
7 citations
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February 2011 in “Journal of dermatology” The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.
A new method allows detailed, continuous imaging of crustacean leg regeneration without harming the cells.
112 citations
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August 2012 in “The American Journal of Human Genetics” Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
9 citations
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July 2007 in “Circulation Research” Defects in certain proteins cause major heart abnormalities during early development.
2 citations
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August 2023 in “Development” Hair follicles in the back of the rosette fancy mouse have reversed orientations due to a gene mutation.
January 2014 in “eScholarship (California Digital Library)” Toll-like receptor 3 helps repair the skin barrier after UV damage.
January 2019 in “Columbia Academic Commons (Columbia University)” TRPV3 and TRPV6 channels change structure to regulate calcium and heat responses.
4 citations
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January 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” PrrH sRNA controls pyochelin gene expression in Pseudomonas aeruginosa based on heme levels.
11 citations
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October 2023 in “mSphere” PrrH sRNA controls pyochelin production in *Pseudomonas aeruginosa*.
53 citations
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May 1996 in “The Journal of Clinical Endocrinology & Metabolism” Different mutations in the 5 alpha-reductase-2 gene were found in affected individuals in the Dominican Republic, suggesting no common ancestry.
10 citations
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August 1998 in “Journal of Investigative Dermatology” 28 citations
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January 2015 in “Journal of Cell Science” PINCH-1 is crucial for skin cell adhesion and movement, working with EPLIN and ILK.
29 citations
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September 2018 in “Journal of the American Heart Association” EP 2 receptor is essential for heart repair by helping macrophages work properly.
37 citations
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April 2018 in “Journal of Allergy and Clinical Immunology” A mutation in the IKZF1 gene causes immune system overactivity, linked to autoimmune diseases like lupus.
5 citations
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September 2013 in “BMB Reports” BMPR1a-ECD reduces wrinkles much more effectively than retinoic acid.
27 citations
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November 2007 in “Genomics” Mutations in specific keratin genes cause improper hair structure in mice due to faulty keratin protein assembly.
21 citations
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October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.
22 citations
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May 2021 in “Nature Communications” Tissue stiffness affects hair follicle regeneration, and Twist1 is a key regulator.
January 2026 in “Pakistan journal of urology.” Awareness of Penile Thread Tourniquet Syndrome is crucial for preventing severe complications in children.
25 citations
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May 2016 in “Progress in Biophysics & Molecular Biology” R-spondins and their receptors help increase bone growth and may be used to treat bone loss diseases.