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April 2019 in “The Plant Journal” Cyclic nucleotide-gated channels are crucial for proper root hair growth and calcium balance in plants.
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November 2016 in “Journal of Dental Research” Pannexin 3 is important for bone formation and the development of bone cells.
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November 2022 in “Diagnostics” A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.
January 2025 in “Clinical Pediatric Endocrinology” Calcium supplements improved bone deformities but not skin papules or hair loss.
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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.
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September 2008 in “Developmental biology” Retinoic acid-binding proteins in skin are regulated by β-catenin and Notch signalling.
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January 2008 in “Journal of Korean Medical Science” NGAL may help maintain skin balance and is linked to skin disorders and cancers.
64 citations
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August 2014 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A deficiency in the TTC7A gene causes immune problems, gut issues, and hair loss.
January 2024 in “The Egyptian Journal of Hospital Medicine” Men with male pattern baldness have higher levels of A-FABP, which might help in early detection.
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June 2016 in “Journal of cellular biochemistry” The Hr protein binds to DNA, interacts with p53, and affects cell cycle genes.
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July 2012 in “Calcified Tissue International” A single injection of PTH–CBD can increase bone density for up to a year.
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November 2015 in “Annals of the New York Academy of Sciences” Changing the diet of mice lacking the enzyme CBS can affect symptoms related to the genetic condition.
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July 2014 in “Journal of Investigative Dermatology” Nagashima-type palmoplantar keratosis in Asians is caused by a SERPINB7 gene mutation.
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June 1983 in “Journal of Investigative Dermatology” The enzyme is crucial for skin cell development and can be activated without proteolytic activation.
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A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.
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December 2021 in “Frontiers in endocrinology” A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.
January 2010 in “JOURNAL of SIBERIAN MEDICAL SCIENCES” Early phosphorus-calcium disorders in children with chronic kidney disease can lead to bone issues, highlighting the need for early bone density testing.
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November 2009 in “The FASEB Journal” Calreticulin has roles in healing, immune response, and disease beyond its known functions in the endoplasmic reticulum.
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July 2017 in “Scientific Reports” A single amino acid change in the vitamin D receptor can disrupt its function and lead to hair loss.
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July 2012 in “Journal of Lipid Research” ACBP is crucial for healthy skin in mice.
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September 2012 in “Human molecular genetics online/Human molecular genetics” Folliculin deficiency causes problems with cell division and positioning due to disrupted RhoA signaling and interaction with p0071.
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April 2012 in “Journal of Investigative Dermatology” A specific mutation in PA-PLA1α causes abnormal hair growth.
March 2008 in “The Knowledge Bank (The Ohio State University)” SARM-induced changes in the androgen receptor are specific to each ligand and affect stability and protein interactions.
Ca²⁺-mediated protein citrullination controls cell growth in the CNS and may help treat brain tumors.
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January 2007 in “The journal of investigative dermatology/Journal of investigative dermatology” Scientists discovered a unique hair protein, KAP24.1, with a special structure, found only in the upper part of hair cuticles.
October 2024 in “Journal of the Endocrine Society” Certain genetic variants reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia.