January 2024 in “LA Referencia (Red Federada de Repositorios Institucionales de Publicaciones Científicas)” This study found that Carbon Quantum Dots effectively detected and quantified Co²⁺ ions and methylcobalamin in tap water with high sensitivity and recovery rates between 95% and 105%.
11 citations
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May 1985 in “Archives of Dermatology” This study found that calcitriol-resistant rickets is associated with alopecia in children and should be considered in the differential diagnosis of hair loss.
August 2019 in “International journal of contemporary pediatrics” This case study reports that a 3 ½ year-old male with vitamin D-dependent type II rickets showed partial improvement in alopecia and rickets when treated with high doses of 1,25(OH)2 vitamin D3.
47 citations
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February 1998 in “Journal of bone and mineral research” In this study, researchers identified a unique Arg30stop mutation in the vitamin D receptor gene that causes hereditary vitamin D-resistant rickets in a young French-Canadian boy by truncating the receptor and causing hormone resistance.
97 citations
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March 2002 in “Molecular and cellular biology” This study found that mice with a mutant CDP/Cux protein lacking the homeodomain showed severely impaired growth, high postnatal mortality, and reduced fertility, highlighting CDP/Cux's role in developmental regulation.
January 2026 in “Applied Sciences” In this study, cyclic ADP-ribose (cADPR) treatment in human hair follicle dermal papilla cells was associated with increased intracellular calcium retention and activated anagen-related signaling without causing significant cytotoxicity, indicating its potential impact on hair growth processes.
18 citations
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February 2010 in “Odontology” This report describes Rabson-Mendenhall syndrome cases in two siblings and briefly reviews the literature, highlighting insulin receptor gene mutations as the underlying cause.
January 2021 in “Medical Research Archives” This study observed that 25-hydroxyvitamin D3 restored rickets symptoms in genetically modified rats, suggesting its direct action through vitamin D receptor pathways.
25 citations
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September 2005 in “Journal of the American Academy of Dermatology” This study reported that Rapp-Hodgkin syndrome, AEC syndrome, and EEC syndrome are likely part of a single genetic disorder spectrum linked to mutations in the TP63 gene.
June 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” This study developed new immortalized keratinocyte cell lines lacking COL7A1 using CRISPR/Cas9 technology, providing a valuable model to explore the biology and treatment options for recessive dystrophic epidermolysis bullosa.
January 2025 in “bioRxiv (Cold Spring Harbor Laboratory)” This study identifies Armadillo Repeat Only proteins as crucial regulators of plant CNGC channels, influencing various plant functions and showcasing a unique plant-specific role in Ca2+ signaling.
13 citations
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February 2012 in “International Journal of Dermatology” This case report identifies a novel nonsense mutation in the CDH3 gene associated with hypotrichosis and juvenile macular dystrophy.
81 citations
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March 1985 in “Journal of Clinical Investigation” This study found that measuring 24-OHase induction by 1,25(OH)2D3 in cultured skin fibroblasts is a sensitive test for detecting genetic defects in the 1,25(OH)2D effector pathway.
32 citations
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July 2018 in “FEBS letters” In this study, researchers identified the CBL1-CIPK26 Ca 2+ sensor-kinase complexes as key modulators of the NADPH oxidase RBOHC crucial for root hair differentiation in plants.
2 citations
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April 2018 in “Journal of Investigative Dermatology” This study defines two types of RDEB wounds, chronic open and recurrent, and finds that patient self-reports on wound size correlate well with investigator measurements when complemented by serial photography.
5 citations
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October 2012 in “Australian veterinary journal” This report describes two South Australian Poll Hereford calves with a syndrome of congenital dyserythropoietic anaemia, dyskeratosis, and progressive alopecia, observing specific blood and bone marrow abnormalities.
56 citations
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April 2019 in “The Plant Journal” This study found that CNGC 6, CNGC 9, and CNGC 14 are crucial for maintaining calcium oscillations necessary for normal root hair growth in plants, with mutations leading to defects like swelling and bursting.
January 2025 in “Clinical Pediatric Endocrinology” In a case study of vitamin D-dependent rickets type 2A, researchers observed that while active vitamin D treatment failed to improve bone and laboratory abnormalities, oral calcium lactate significantly ameliorated these issues, although skin and hair problems remained unresponsive.
April 2024 in “Current Rheumatology Reviews” This case report describes an 8-year-old girl with Mixed Connective Tissue Disease who experienced remission after treatment with immunomodulator drugs, highlighting the diagnostic value of anti-U1 RNP antibody testing in children.
1 citations
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September 2021 in “Cureus” This study found that the rs1128977 SNP in the RXRG gene may be linked to altered clinical characteristics such as higher HDL-cholesterol levels and increased body mass index in individuals with dyslipidemia.
March 2014 in “Journal of The American Academy of Dermatology” Reflectance confocal microscopy can noninvasively diagnose onychomatricoma by showing unique features different from healthy nails or nail fungus.
October 2023 in “Journal of Pakistan Association of Dermatologists” In this study, reflectance confocal microscopy was shown to provide early insights into sub-clinical treatment progress in patients with androgenetic alopecia, potentially offering advantages over global photography.
20 citations
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April 2011 in “British Journal of Dermatology” Reflectance confocal microscopy can tell apart white dots on the scalp as either sweat gland ducts or hair follicle openings.
November 2023 in “Biomolecules” In this study involving genetically modified rats, researchers observed that specific mutations in the vitamin D receptor affect calcium levels and bone formation, emphasizing the receptor's role in maintaining healthy bone density and its importance in regulating hair cycle and skin health.
9 citations
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January 2015 in “Medical hypotheses” This report suggests that TCDD may alter human epidermal stem cell populations by upregulating c-Myc, potentially leading to increased stem cell turnover during chloracne development.
This case report describes a novel mutation in the CDH3 gene in an 11-year-old Iranian boy with sparse scalp hair and macular dystrophy, leading to altered P-cadherin synthesis.
73 citations
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April 1999 in “Journal of steroid biochemistry and molecular biology/The Journal of steroid biochemistry and molecular biology” This study found that the vitamin D-VDR system is crucial for mineral and bone metabolism post-weaning and identified missense mutations in 1alpha-hydroxylase causing type I rickets.
December 2024 in “Clinical and Experimental Dermatology” This study found that patients with central centrifugal cicatricial alopecia preferred shared decision-making with their doctors regarding treatment management.
September 2022 in “Research Square (Research Square)” This study found that overexpressing Rps14 in supporting cells promoted hair cell regeneration in the organ of Corti by facilitating cell proliferation and differentiation.
October 2025 in “Journal of the Endocrine Society” This case report describes a 35-year-old woman with a Rathke’s cleft cyst presenting with Cushing disease, highlighting the need to evaluate hormonal hypersecretion in atypical pituitary lesions.