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.
39 citations
,
September 2018 in “American Journal of Medical Genetics Part A” This case report describes a 32-month-old girl with a newly identified pediatric disorder linked to a de novo mutation in the ODC1 gene, mirroring symptoms seen in a transgenic mouse model.
9 citations
,
June 2017 in “American journal of ophthalmology. Case reports” This case report identifies a novel CDH3 gene mutation associated with hypotrichosis with juvenile macular dystrophy in a 13-year-old Turkish girl, highlighting implications for future genetic analysis and counseling.
42 citations
,
July 2007 in “Journal of Biological Chemistry” This study found that most pathogenic HR mutants associated with atrichia with papular lesions had abolished corepressor activity due to defective interactions with histone deacetylases.
6 citations
,
November 2017 in “Scientific reports” This study found that a novel R343H mutation in the vitamin D receptor gene impairs its transcription activity, contributing to hereditary vitamin D-resistant rickets and alopecia in the affected family.
215 citations
,
September 2003 in “Journal of Biological Chemistry” This study found that the hairless gene product (Hr) suppresses VDR-mediated gene activation by directly interacting with the vitamin D receptor, potentially affecting hair follicle function.
7 citations
,
June 2016 in “Bone Research” In this study, a Chinese Han family with hereditary vitamin D-resistant rickets was found to have a homozygous missense mutation in the VDR gene, and the affected individual uniquely responded well to treatment with oral calcium and low-dose calcitriol.
20 citations
,
February 1968 in “Journal of Histochemistry & Cytochemistry” This study reports that citrulline, uniquely found in the inner root sheath of hair follicles, can be specifically detected with the carbamido diacetyl reaction, resulting in a bright orange color.
This study investigated dual TCR Treg cells in mouse tissues, revealing a high proportion and diverse pairing patterns compared to single TCR Tregs, providing insights into their origins and characteristics across different tissue locations.
January 2009 in “OhioLink ETD Center (Ohio Library and Information Network)” This study found that p63 and p73 regulate the vitamin D receptor (VDR), with p63 influencing cancer cell behaviors and p73 playing a role in vitamin D-mediated differentiation.
January 2022 in “Chemistry: A European Journal” This study found that synchrotron radiation ECD imaging provides new insights into solid-state Finasteride by highlighting the significant role of anisotropy in local domains for chiroptical measurements.
12 citations
,
November 2003 in “Journal of the American Academy of Dermatology” This study found hair regrowth in the majority of AA-affected mice and rats treated with diphencyprone, suggesting its potential utility for understanding human alopecia areata and the drug's therapeutic action.
December 2023 in “Forensic science international. Genetics” This study found that the RapidHIT™ ID system can successfully obtain DNA profiles from single hair roots, particularly those with high nuclei counts.
In a case report, this study identified a new genetic variant in a six-year-old girl from Saudi Arabia with hypotrichosis and juvenile macular dystrophy, expanding the understanding of the genetic spectrum of this rare condition in the region.
30 citations
,
July 2019 in “Endocrinology” This review discusses how the HSD3B1(1245C) genotype may impact androgen physiology and the progression of castration-resistant prostate cancer, and does not report new experimental results.
February 2016 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” This study reports a novel mutation in the TP63 gene associated with T and B cell lymphopenia in an EEC patient, suggesting that EEC diagnosis should include TREC assay and evaluation for immunodeficiency.
July 2025 in “Journal of Investigative Dermatology” TRIV-509 quickly improves skin barrier and cell health in atopic dermatitis.
24 citations
,
August 2017 in “Prostaglandins & Other Lipid Mediators” This review discusses the potential roles of prostaglandin D2 and its receptor CRTH2 in various diseases beyond allergies and asthma and reports no new clinical results.
1 citations
,
April 2018 in “Journal of Investigative Dermatology” This study found that Polycomb repressive complex 1 is crucial for skin development and stem cell specification, influencing gene activity beyond its known repressor functions.
56 citations
,
November 2007 in “Molecular and cellular endocrinology” This study identified enzymes responsible for regulating androgen action in the human prostate, suggesting that inhibiting AKR1C2 or RL-HSD may have therapeutic potential in androgen insufficiency or benign prostatic hyperplasia, respectively.
28 citations
,
March 2017 in “Endocrinology” In this study, the researchers found that vitamin D and calcium signaling in keratinocytes are essential for normal skin regeneration after wounding, with deficiencies significantly delaying wound closure and re-epithelialization in mice.
21 citations
,
January 2006 in “Hormone Research in Paediatrics” In this case study, a girl with hereditary vitamin D resistant rickets had a novel mutation in the VDR gene that affected hair cycling without causing total alopecia, suggesting ligand-independent VDR function in hair cycling.
September 2024 in “Genes” This study found that overexpressing CRABP1 in dermal papilla cells promotes their proliferation and influences key genes in the Wnt/β-catenin signaling pathway, which may offer insights into mechanisms controlling hair follicle development.
2 citations
,
May 1985 in “Environmental Health Perspectives” This report examines the mechanisms by which TCDD affects human epidermal and carcinoma cells, aiming to create a risk assessment model for halogenated aromatic compounds, but presents no new clinical results.
29 citations
,
January 2010 in “Methods in Enzymology” This review discusses five genetic fate mapping methods used to study cell behaviors during development and regeneration, detailing the necessary tools and considerations without reporting new experimental results.
7 citations
,
November 2010 in “Genesis” Mouse Scube3 affects teeth, tongue, vibrissae, and eye development, but not facial structure or limb growth.
107 citations
,
March 2014 in “BoneKEy Reports” This abstract reviews hereditary vitamin D-resistant rickets, a rare genetic condition causing severe early childhood rickets, and reports no new results; effective treatment typically requires high doses of calcium to address hypocalcemia and secondary hyperparathyroidism.
29 citations
,
February 2022 in “Frontiers in Cell and Developmental Biology” This review discusses strategies to improve CRISPR/Cas systems by addressing limitations like off-target effects and delivery inefficiencies, offering practical guidance and highlighting future applications, but reports no new research findings.
10 citations
,
January 2014 in “Journal of Pediatric Endocrinology and Metabolism” This study identified three new mutations in the VDR ligand-binding domain that may cause dysfunction, and noted that oral calcium and calcidol treatment was effective, but only one patient experienced hair growth.
1 citations
,
November 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that in mice, knockout of Rac1 and Rac3 in keratinocytes led to reduced white adipose tissue and revealed Rac-dependent paracrine pathways affecting pre-adipocyte differentiation.