6 citations
,
July 1980 in “PubMed” This study found higher mean zinc levels in the hair of cystic fibrosis patients with growth retardation compared to those with normal growth.
62 citations
,
December 2007 in “Journal of Cellular and Molecular Medicine” This article reviews the role of Kremen proteins as regulators in the Wnt/β-catenin signaling pathway, highlighting their significance in development and cancer, but reports no new clinical results.
3 citations
,
June 2018 in “Internal Medicine” In this study, a patient with Cronkhite-Canada syndrome complicated by severe sepsis and disseminated intravascular coagulation was successfully treated using combined therapies, including recombinant human soluble thrombomodulin, despite the absence of a standard treatment regimen for CCS.
3 citations
,
October 2024 in “International Journal of Molecular Sciences” This study found that subthermal CRET treatment increased keratinocyte proliferation and modulated cytokine production, affecting the inflammatory response in human keratinocytes through EGFR and ERK1/2/NF-κB pathways.
This study found that FGF5 alternative spliceosomes inhibit dermal papilla cell proliferation and regulate hair follicle growth-related gene expression, impacting hair follicle development in rabbits.
4 citations
,
September 2013 in “Journal of biomolecular structure and dynamics/Journal of biomolecular structure & dynamics” This study suggests that caribine may enhance the interaction between CRFR and maltose binding protein, potentially offering a new approach for treating hair loss.
62 citations
,
December 2007 in “Journal of biological chemistry/The Journal of biological chemistry” This study found that enzymatic conversion of Arg-51 in S100A3 protein to citrulline promotes homotetramer assembly, potentially increasing Ca²⁺ binding required for hair cuticular barrier formation.
260 citations
,
July 2010 in “Cell” This study identifies mutations in the SRD5A3 gene as a cause of a new type of congenital disorder of glycosylation, impacting mental, ophthalmologic, and cerebellar functions.
178 citations
,
October 2001 in “Genes & Development” This study found that the mammalian hairless gene encodes a corepressor protein that interacts with thyroid hormone receptors, providing insights into hair loss syndromes in humans and mice.
3 citations
,
August 2024 in “The Journal of Cell Biology” This study demonstrated that in live rodents, actin filaments adjust their structure to facilitate membrane transfer between cellular compartments with different biophysical properties.
September 2025 in “Digital Commons - RU (Rockefeller University)” In this study, researchers found that mice lacking the transcription factor FOXC1 in their hair follicle stem cells had increased rounds of hair regeneration but experienced hair thinning due to impaired ability to maintain stem cell quiescence and adhesion.
This study found that fibroblast growth factor 20 (Fgf20) orchestrates the movement and behavior of dermal fibroblasts, directing their formation into dermal condensates during hair follicle development in mice.
November 2012 in “Experimental and Clinical Endocrinology & Diabetes” This case report describes a 46,XY female patient with a novel homozygous nonsense mutation in the LHCGR gene, highlighting the need for molecular analysis in disorders of sexual development.
29 citations
,
January 2003 in “Genomics” A new mouse mutation causes skin and hair issues, influenced by another gene.
June 2020 in “Zenodo (CERN European Organization for Nuclear Research)” This review discusses Robertsonian chromosomal translocations and their prevalence in the population, highlighting their association with infertility, and reports no new clinical results.
34 citations
,
September 2010 in “Clinical and Experimental Dermatology” This study identified a new heterozygous mutation in the connexin 26 gene (c.263C>T; p.Ala88Val) in a premature neonate with KID syndrome, who later died from complications.
March 2025 in “American Journal of Medical Genetics Part A” In this study, researchers found that mosaic PLCD1 hotspot variants, even without the recognized germline "risk allele," may be a rare but significant genetic cause of nevus trichilemmocysticus, warranting DNA testing and sensitive sequencing technologies for accurate diagnosis.
10 citations
,
September 2015 in “PLoS ONE” This case report documents a female toddler with novel compound heterozygous mutations in the VDR gene causing hereditary 1,25-dihydroxyvitamin D-resistant rickets, expanding the known mutation spectrum for this disease.
193 citations
,
May 2008 in “Development” This study found that activating β-catenin signaling in embryonic epidermis promoted hair follicle characteristics at the expense of normal epidermal differentiation, leading to early pigmentation and innervation.
June 2026 in “Strathprints: The University of Strathclyde institutional repository (University of Strathclyde)” In this study, researchers found that inhibiting IKKα in patient-derived CCS tumour models reduces tumour viability, supporting the potential for topical IKKα inhibitors as a treatment for CCS.
4 citations
,
July 2012 in “Genesis” This study reported that a Megsin-Cre transgene enables genetic manipulation primarily in skin, forestomach, and esophagus tissues, offering a new tool for studying development and diseases in these areas.
December 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, 25% of CCHCR1-deficient mice exposed to stress developed hair loss similar to human alopecia areata, suggesting CCHCR1 is a susceptibility gene for the disease.
10 citations
,
March 2015 in “Journal of dermatology” This case report describes a 12-year-old boy with severe skin scaling due to novel compound heterozygous null truncation mutations in the TGM1 gene, resulting in loss of transglutaminase 1 activity.
January 2022 in “International Journal of Medical Sciences” This study investigated the effects of cedrol on colorectal cancer and found that it inhibited cell proliferation and induced cell cycle arrest and apoptosis in cell models, while in vivo, it suppressed cancer progression and improved survival at a well-tolerated dose.
This study found that mutant Cx43 impairs fibroblast function during wound healing and reduces hair follicle cell proliferation, likely contributing to hair growth defects in ODDD patients.
11 citations
,
September 2011 in “British Journal of Dermatology” New ABCA12 gene mutations were linked to a skin condition with scaling and hair loss, and a treatment helped with hair loss in a related case.
18 citations
,
February 2015 in “Acta Crystallographica Section D: Structural Biology” This study reports that Ca 2+ binding alters the dynamics and surface properties of PKD-like domains in Clostridium histolyticum collagenases, enhancing their stability and potentially aiding in collagen-targeting vehicle development.
7 citations
,
April 2020 in “JIMD Reports” In this follow-up of three siblings with ATP6AP1 deficiency, the researchers observed progression to total hearing loss, hair loss, and proteinuria.
125 citations
,
February 2007 in “The EMBO Journal” Fgfr2b helps maintain healthy skin and prevent cancer.
21 citations
,
October 2022 in “International Journal of Molecular Sciences” This study found that quercitrin, a natural compound, enhances Wnt/β-catenin signaling and may help mitigate synapse loss and memory impairment in Alzheimer's models.