1 citations
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August 2023 in “The journal of pharmacology and experimental therapeutics/The Journal of pharmacology and experimental therapeutics” Kir6.1 mutations in Cantú syndrome increase channel sensitivity and hyperpolarization, while SUR2B mutations do not.
3 citations
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May 2018 in “Reproductive Sciences” The drug BAY 1158061 is safe, well-tolerated, and shows potential for treating diseases related to prolactin.
MFN2 mutations cause mitochondrial problems, unusual fat distribution, and low leptin despite high body fat.
36 citations
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March 2014 in “Cell death and differentiation” Disrupting β-catenin signaling in certain cells causes anorectal malformations.
13 citations
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January 2018 in “Advances in experimental medicine and biology” 5 citations
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February 2005 in “Journal of the American Academy of Dermatology” Focal palmoplantar callosities may help diagnose non-Herlitz junctional epidermolysis bullosa.
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.
October 2007 in “Clinical Biochemistry” New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.
80 citations
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June 2002 in “Molecular Biology of the Cell” Type II keratins are uniquely phosphorylated during stress and mitosis, affecting their structure and function.
August 2018 in “Dermatologic Surgery” 3 citations
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July 2024 in “Frontiers in Medicine” Mutations in the KLHL24 gene cause a skin disorder in some Russian families.
7 citations
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August 2020 in “Animal biotechnology” A specific RNA in cashmere goats helps improve hair growth by interacting with certain molecules.
8 citations
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April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Certain genetic changes in the LSS gene cause a rare skin and hair condition.
3 citations
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August 2012 in “Nature Cell Biology” Certain proteins help nerve cells branch, and other findings relate to cancer, stem cell behavior, and cell division.
September 2017 in “Journal of Investigative Dermatology” LRIG1 protein affects hair growth by regulating skin receptors, leading to hair loss when overexpressed.
29 citations
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January 2013 in “International Journal of Medical Sciences” Wnt10b helps hair follicle cells mature and produce pigment.
1 citations
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May 2023 in “Frontiers in endocrinology” A new MBTPS2 gene variant disrupts fat metabolism and collagen production, causing Osteogenesis imperfecta.
March 2026 in “American Journal of Clinical Dermatology” 50 citations
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February 2004 in “Genomics” A gene mutation causes lanceolate hair in rats by disrupting hair shaft integrity.
15 citations
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January 1993 in “DNA sequence” KRT2.13 gene is similar to KRT2.9 but not expressed in hair follicles.
September 2023 in “UCrea (University of Cantabria)” Nails are essential for fingertip regeneration.
1 citations
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May 2019 in “Cytotherapy” The new ddPCR method reliably detects unwanted viruses in CAR-T cell products, ensuring their safety for patients.
26 citations
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September 2018 in “Journal of Molecular Cell Biology” Endoglin is crucial for proper hair growth cycles and stem cell activation in mice.
11 citations
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August 2014 in “PLoS ONE” GFRα2 is essential for controlling neuron size but not for target innervation in certain sensory neurons.
November 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Scientists made a mouse that shows how a specific protein in the skin changes and affects hair growth and shape.
14 citations
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January 2017 in “Pharmacological Reports” TP0427736 may help treat hair loss by blocking a specific protein and promoting hair growth.
78 citations
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October 2007 in “Journal of Investigative Dermatology” Delta1 is crucial for controlling skin cell growth and preventing tumors in mice.
9 citations
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June 2019 in “Cell cycle/Cell cycle (Georgetown, Tex. Online)” A specific RNA increases hair stem cell growth and skin healing by affecting a protein through interaction with a microRNA.
April 2023 in “Journal of Investigative Dermatology” The specific skin disease variant p.(Arg2000Trp) in plectin can cause a wide range of symptoms, which should be considered when diagnosing patients.