9 citations
,
October 2022 in “Nature Communications” In this study, researchers developed a new photoactivatable Cre recombinase mouse model, DiLiCre, which allows precise light-induced genetic modifications and cell tracing, demonstrating its effectiveness for advancing biological and biomedical research.
78 citations
,
October 2007 in “Journal of Investigative Dermatology” Delta1 is crucial for controlling skin cell growth and preventing tumors in mice.
July 2024 in “Journal of Investigative Dermatology” CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.
1 citations
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May 2019 in “Cytotherapy” This study found that digital droplet PCR (ddPCR) outperformed qPCR in detecting replication competent lentivirus in CAR-T products by offering better sensitivity, specificity, and reproducibility, making it a reliable and rapid method for ensuring patient safety.
33 citations
,
August 2000 in “Experimental Cell Research” June 2003 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” GLABRA2 represses root hair formation by inhibiting a specific gene.
62 citations
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January 2009 in “Biochemistry” This study found that both the natural ligand 1alpha,25(OH)(2)D(3) and the synthetic agonist LG190178 bind similarly to the vitamin D receptor's coregulator motifs, suggesting similar biological functions.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” In this case study, a 26-year-old female with PLEC mutations and features of muscular dystrophy and myasthenia gravis showed significant improvement in symptoms following steroid treatment.
January 2017 in “Open Journal of Endocrine and Metabolic Diseases” This case report identifies an adolescent with symptoms indicative of Dunnigan-type partial lipodystrophy, emphasizing the need for early diagnosis to manage associated metabolic complications and improve self-esteem.
This study found that individuals with homozygous loss-of-function mutations in PLAAT3 experience a novel type of partial lipodystrophy linked to defects in white adipose tissue differentiation and function.
April 2023 in “Journal of Investigative Dermatology” This study found that LSD1 is crucial for embryonic skin barrier formation in mice, revealing its significant role in epidermal development and suggesting its potential as a target in skin diseases with barrier defects.
8 citations
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January 2018 in “Journal of Analytical Methods in Chemistry” This study developed a reliable HPLC-UV/Vis method to determine aluminum phthalocyanine chloride in skin, supporting its use in skin permeation studies for photodynamic therapy of cutaneous tumors.
14 citations
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August 2015 in “Endocrinology” This study describes the development of a monoclonal antibody, 005-C04, which blocks PRLR-mediated signaling, suggesting its potential for furthering understanding of PRLR's role in health and disease.
This study explored the structure and function of lipocalin prostaglandin D synthase, revealing its dual role in substrate catalysis and as a lipophilic ligand carrier, potentially informing future drug delivery design.
33 citations
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May 2017 in “Journal of Clinical Oncology” This phase I study reported that ETC-159, targeting Wnt signalling, showed tolerable safety profiles at doses that inhibit its pathway, though bone turnover markers increased, warranting early and regular monitoring. No tumor responses were observed, but two patients achieved stable disease for several cycles.
September 2003 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” GLABRA2 gene controls root-hair growth by regulating phospholipid signaling.
1 citations
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January 2023 in “Frontiers in Physiology” This study describes a new method using near infrared femtosecond laser pulses to precisely ablate individual cells in the Drosophila epidermis and peripheral nervous system without damaging surrounding tissues, allowing for detailed observation of cellular responses post-ablation.
November 2024 in “Communities in ADDI (University of the Basque Country)” Antisense oligonucleotides show promise for treating Myotonic Dystrophy type I.
37 citations
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February 2007 in “Experimental Dermatology” This study found that PDCD4 protein expression is reduced in various skin cancers compared to normal skin, suggesting its potential role in preventing or treating certain skin cancers.
25 citations
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November 2017 in “Molecular Medicine Reports” This study found that PlncRNA‑1 may enhance the proliferation and differentiation of hair follicle stem cells by upregulating the TGF‑β1-mediated Wnt/β-catenin signaling pathway.
9 citations
,
July 2007 in “Circulation Research” This study found that disruptions in planar cell polarity signaling are implicated in congenital heart defects and cardiomyopathy in developing mouse hearts, associated with early cardiomyocyte disorganization and improper heart looping.
91 citations
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December 2019 in “The EMBO Journal” This study found that the E3 ligases NEDD4 and NEDD4L regulate intestinal stem cell priming by degrading the LGR5 receptor, and their loss leads to increased Wnt activation and crypt proliferation, which in turn accelerates intestinal tumor progression in mice.
26 citations
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May 2016 in “Journal of biological chemistry/The Journal of biological chemistry” This study found that mice lacking sPLA2-IIE had distinct skin abnormalities, particularly affecting hair follicles, highlighting the differing roles of sPLA2 isoforms in mouse skin.
3 citations
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August 2024 in “Cureus” This study found that DALL-E 2 performed poorly in generating accurate images of most pediatric dermatological conditions, highlighting the need for more domain-specific and inclusive training data.
This study demonstrated that de novo designed bifunctional proteins can target and degrade BCL-xL, leading to cell apoptosis, suggesting a new approach to targeted protein degradation therapy.
2 citations
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April 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study introduced a statistical method, PLACO, which revealed novel genetic regions associated with both Type 2 Diabetes and Prostate Cancer from GWAS data.
59 citations
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October 2012 in “Pharmaceutical Research” This study found that nanostructured lipid carriers with more soybean phosphatidylcholine provided better skin retention and follicular targeting for diphencyprone compared to other formulations and controls.
November 2025 in “Journal of Investigative Dermatology” A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
This thesis found that desmoplakin mutations in cardiocutaneous syndrome are linked to dose-dependent disease severity and identified mechanisms by which KLHL24 mutations cause cardiomyopathy, with rescue experiments successfully preventing this phenotype in patient-derived heart tissues.
August 2020 in “Research Square (Research Square)” This study found that PD-MSCs overexpressing PRL-1 inhibited adipogenesis in orbital fibroblasts from Graves' ophthalmopathy patients, potentially offering a new therapeutic approach for degenerative diseases.