6 citations
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June 2016 in “Journal of cellular biochemistry” This study found that the mammalian Hr protein can interact with the p53 pathway by binding to a specific p53 response element, influencing the regulation of genes involved in cell cycle control.
July 2023 in “International Journal of Molecular Sciences” In this study, Trapa bispinosa Roxb. pericarp extract demonstrated inhibitory effects on 5α-reductase activity both in vitro using LNCaP cells and in vivo in a mouse model of benign prostatic hyperplasia, suggesting its potential role in managing the condition.
April 2026 in “Human Genome Variation” This study identified a specific hemizygous intronic variant in the MBTPS2 gene associated with IFAP syndrome in a patient, revealing exon skipping and reduced normal transcript expression through long-read RNA sequencing.
April 2016 in “Journal of Investigative Dermatology” This study found that the peptide derivative beta-Ala-Pro-Dab-NHbenzyl may reduce wrinkles and sebum production in human skin by inhibiting dipeptidyl peptidase 4, suggesting potential for acne and skin inflammation treatment.
July 2026 in “Research Square”
44 citations
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February 2012 in “The journal of neuroscience/The Journal of neuroscience” This study observed that Ptprq mutant mice exhibit significant abnormalities in hair bundle structure and vestibular dysfunction, suggesting similar issues may contribute to hearing loss and vestibular problems in humans with PTPRQ mutations.
4 citations
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February 2021 in “Plant journal” This study found that the protein OsUEV1B is essential for maintaining phosphate balance in rice, with Pi deficiency leading to its inhibition and causing overaccumulation of phosphate in mutants.
1 citations
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January 2024 CaBP1 and CaBP2 are necessary for proper hearing and neurotransmission in the ear's inner hair cells.
1 citations
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June 2023 in “Animals” In this study, researchers found that overexpression of CRABP2 enhanced the proliferation of dermal papilla cells in Hu sheep through activation of the Wnt/β-catenin pathway, even when the pathway was inhibited.
CaBP1 and CaBP2 are necessary for proper hearing and neurotransmission in the ear's inner hair cells.
1 citations
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May 2023 in “Frontiers in endocrinology” The researchers reported that the novel MBTPS2 variant p.Glu172Asp found in a male proband is likely pathogenic, consistent with osteogenesis imperfecta symptoms and molecular signatures, including disrupted fatty acid metabolism and collagen production.
45 citations
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January 2010 in “Journal of Veterinary Medical Science” This study identified a mutation in the keratin 71 gene that causes curly hair in certain rats, advancing our understanding of hair formation.
January 2017 in “Hair transplant forum international” This study examined the effects of platelet-rich plasma (PRP) treatment on women with female androgenetic alopecia in a double-blind, placebo-controlled pilot trial, but specific results were not reported in the abstract.
January 1999 in “American Journal of Medical Genetics Part A” This case report describes a rare occurrence of ectodermal dysplasia features in a 14-year-old with MBTPS1 gene variants, expanding the known spectrum of related disorders.
13 citations
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January 2019 in “Journal of the American Academy of Dermatology” This study found that those with pityriasis rubra pilaris reported worse quality of life than patients with most other dermatologic conditions, impacting daily activities and emphasizing its severe life quality implications.
March 2022 in “Benha Journal of Applied Sciences” This study suggests that the serum marker may play a role in the pathogenesis of tinea capitis and could serve as an independent risk factor for assessing vulnerability, activity, and severity of the condition.
1 citations
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December 2016 in “Revista română de medicină de laborator” This study reported the first case of a NIPAL4 c.527C>A mutation in Romanian patients with autosomal recessive congenital ichthyosis, finding that NIPAL4 mutations are more common than TGM1 mutations in this population.
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
11 citations
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May 2012 in “Genesis” This study in mutant mice found that Bmpr2 and Acvr2a are individually redundant, but together essential for normal hair follicle development, with their reduction causing rapid hair cycling and graying.
CaBP1 and CaBP2 are important for continuous hearing by preventing inactivation of calcium currents in ear cells, with CaBP2 also able to restore hearing when reintroduced.
CaBP1 and CaBP2 are important for maintaining hearing by supporting continuous calcium currents and nerve signaling in the ear.
December 2023 in “Sains Malaysiana” In this study, researchers used in silico mutagenesis to identify key calcium-binding sites influencing the stability of Rand protease from Bacillus subtilis, potentially enhancing its application in industries like leather dehairing by improving stability and eliminating the need for additional metal ions during the process.
16 citations
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April 2021 in “Plant Signaling & Behavior” This study found that in Arabidopsis, the MYB30-EIN3 module plays a role in adapting root hair development to phosphate deficiency, potentially enhancing phosphate uptake from soil.
13 citations
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July 2016 in “Indian Journal of Dermatology” This report describes two Saudi brothers with dermatopathia pigmentosa reticularis who exhibited normal hair shafts despite their condition.
July 2024 in “Journal of Investigative Dermatology” PP405 may help hair growth by activating hair follicle stem cells.
4 citations
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January 2017 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” This study identified two distinct VDR gene mutations among Lebanese families with hereditary vitamin D-resistant rickets, noting varied treatment responses and promising outcomes despite severe phenotypes.
48 citations
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March 2007 in “The journal of investigative dermatology/Journal of investigative dermatology” This study observed that retinoic acid biosynthesis and signaling in hair follicles have a spatial and temporal regulation linked to distinct stages of the hair cycle in mice.
PTHrP is important for bone formation and may be targeted for osteoporosis treatment and longevity therapies.
January 2010 in “프로그램북(구 초록집)”