3 citations
,
May 2020 in “Journal of Cellular and Molecular Medicine” This study identified critical roles for the gene GREM1 in the differentiation and expansion of endothelial progenitors derived from human urinary induced pluripotent stem cells.
12 citations
,
June 2019 in “Psychoneuroendocrinology” This study found that in rodent models, the ability of D1 dopamine receptor activation to impair sensory gating is facilitated by 5α-reductase type 1, which produces allopregnanolone.
January 2026 in “Current Issues in Molecular Biology” This study found that transfecting alpaca melanocytes with miR-5110 altered gene expression related to pigmentation, specifically identifying pathways like MAPK and Wnt as involved in melanogenesis regulation, providing insights into miR-5110's role in pigmentation processes.
42 citations
,
September 2017 in “Advances in protein chemistry and structural biology” This chapter reviews surface plasmon resonance (SPR) methodology and its applications in basic science and human disease without reporting new clinical results.
April 2012 in “Cancer research” In this study, the authors found that targeting mTORC1 with rapamycin inhibited TPA-induced skin tumor promotion by affecting keratinocyte proliferation, including critical stem cell populations in the mouse epidermis.
16 citations
,
February 2018 in “BMC Genomics” This paper reviews genome-based personalized medicine developments using Web services for analyzing SNPs in reproductive potential but reports no new clinical findings.
1 citations
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December 2018 in “Journal of genetic medicine” In this case report, a 20-year-old male with tricho-rhino-phalangeal syndrome was found to have a de novo frameshift mutation in the TRPS1 gene, highlighting the challenges in diagnosing this rare disorder.
11 citations
,
January 2014 in “Dermatology” This study identified three SPINK5 mutations, including two novel ones, in Israeli patients with Comèl-Netherton syndrome, suggesting recurring mutations that should inform future diagnostic strategies in Israel.
June 2025 in “Albus Scientia” This review discusses the role of the MC1R gene in human pigmentation and its genetic variants, reporting no new results; the authors highlight its forensic applications for phenotypic prediction.
67 citations
,
August 2007 in “American Journal of Pathology” This study found that overexpression of the mineralocorticoid receptor in a mouse model led to premature epidermal barrier development, keratinocyte apoptosis, and postnatal alopecia, indicating new roles for MR signaling in skin physiology.
15 citations
,
March 2021 in “EMBO Reports” PRSS35 enzyme may help start skin tumors and could be a target for cancer treatment.
January 2020 in “Archivio Istituzionale della Ricerca (Universita Degli Studi Di Milano)” This study found that Polycomb Repressive Complex 1 is crucial for maintaining stem cell identity across different lineages, but its loss results in varied transcriptional outcomes depending on the tissue context.
11 citations
,
January 2021 in “British Journal of Dermatology” This report describes a new case of syndromic ichthyosis caused by compound heterozygous mutations in AP1B1, detailing the associated clinical features and molecular consequences in the patient.
30 citations
,
March 2019 in “Archives animal breeding/Archiv für Tierzucht” In this study, variation in the KRTAP15-1 gene in goats was linked to changes in cashmere fibre diameter, with specific variants showing dominant or recessive effects.
July 2008 in “VTechWorks (Virginia Tech)” This study suggests that PrPC plays a role in the differentiation of mouse embryonic stem cells during neurogenesis, impacting neural progenitor cell development.
September 2020 in “Acta Scientific Cancer Biology” This case report describes how personalized treatment based on Encyclopedic Tumor Analysis successfully led to durable regression in a woman with advanced pilomatrical carcinoma, unresponsive to standard care.
June 2025 in “Neurology India” This case report describes a young girl with a rare association of anti-SRP positive necrotizing autoimmune myopathy and systemic lupus erythematosus, who responded well to corticosteroid treatment.
1 citations
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January 2002 in “PubMed” The researchers reported that both finasteride and PM-9 competitively inhibit the 5 alpha-reductase enzyme in P. crustosum broth.
May 2019 in “CINECA IRIS Institutial Research Information System (University of Genoa)” This study found that patients with the MITF p.E318K variant are more likely to develop multiple primary melanomas and dysplastic nevi with uncommon dermoscopic patterns compared to non-carriers.
26 citations
,
May 2024 in “Molecular Neurodegeneration” This review assesses existing knowledge about the 17q21.31 inversion polymorphism, highlighting its genetic structure differences across ancestries, associations with various diseases, and implications for precision medicine and drug discovery.
March 2013 in “Molecular & Cellular Toxicology/Molecular & cellular toxicology” In this study, exposure to m-Aminophenol in human keratinocytes altered the expression of thousands of genes involved in inflammation and stress responses, suggesting potential biomarkers for MAP-induced skin toxicity.
36 citations
,
November 2005 in “Forensic Science International” This study developed a new STR typing strategy for forensic casework, enabling the simultaneous analysis of 11 polymorphic systems, particularly useful for limited or degraded DNA samples such as telogen hair roots.
4 citations
,
October 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that the MD-3 antibody significantly improved the survival of hair follicle allografts in nonhuman primates by reducing T-cell infiltration.
6 citations
,
January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” This report details the case of an 11-year-old girl with APECED syndrome carrying a unique homozygous mutation in the AIRE gene, the first of its kind documented.
February 2026 in “Toxicology Letters” This study used an in silico/in vitro approach to identify potential inhibitors of the enzyme SRD5A2, finding that the androgen receptor modulator MK-0773 is a moderate inhibitor, although it does not act as a covalent inhibitor like finasteride.
7 citations
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May 2022 in “Cancers” This study found that UC.145 influences DKK1 methylation and Wnt signaling in gastric cancer, with implications for patient survival and its potential as a predictive biomarker.
September 2022 in “Canadian journal of animal science” This study found that polymorphisms in KRTAP13.1, KRTAP27-1, and KRTAP24-1 were significantly associated with fiber diameter in Jiangnan cashmere goats, which may aid future breeding and conservation efforts.
15 citations
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June 2012 in “British Journal of Dermatology” This study identified a novel KRT86 mutation associated with autosomal dominant monilethrix, expanding understanding of its genetic basis beyond known motifs.
This case report from the study described a 62-year-old woman with pityriasis rubra pilaris and Kaposi's varicelliform eruption, whose skin condition improved significantly with isotretinoin treatment over 43 weeks.
December 2023 in “Journal of health and rehabilitation research” In this study conducted at a tertiary care hospital in Karachi, oral Apremilast significantly reduced the severity of alopecia areata, shown by a notable decrease in SALT Scores over 12 weeks, suggesting it may be an effective alternative treatment option for this condition.