January 2025 in “Nature Communications” This study discovered that calcium dependent protein kinase 1 (CPK1) directly activates cyclic nucleotide-gated channels 5, 6, and 9, promoting root hair growth in Arabidopsis by regulating Ca²⁺ signaling.
1 citations
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October 2025 in “Micromachines” This review highlights the potential of integrating point-of-care testing with allele-specific amplification techniques like AS-PCR, AS-LAMP, and AS-RPA to improve the efficiency, accuracy, and affordability of genotyping single nucleotide polymorphisms associated with human diseases.
March 2026 in “Zenodo (CERN European Organization for Nuclear Research)” This report reviews the causes, symptoms, diagnosis, complications, and treatment options for Polycystic Ovarian Disease, emphasizing the importance of early diagnosis and individualized management, but it does not provide new research findings.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that an E-cadherin mutant preserved normal cadherin levels and prevented inflammation and lethality in mouse skin lacking p120, highlighting p120's role in regulating cadherin-mediated cell adhesion and inflammation.
March 2026 in “Zenodo (CERN European Organization for Nuclear Research)” This report provides an overview of polycystic ovarian disease, discussing its causes, symptoms, and management strategies, but presents no new clinical findings.
April 2018 in “Journal of Investigative Dermatology” In this study, researchers identified CENPV as a new CYLD interacting partner that localizes to primary cilia and regulates acetylated tubulin levels, offering insights into the pathogenesis of skin appendage tumors.
146 citations
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June 2012 in “PLoS ONE” This study observed that quiescent label-retaining cells in the intestine, identified by Paneth cell markers, can switch to a proliferative state and activate Bmi1 expression during tissue injury, contributing to tissue regeneration.
11 citations
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December 2013 in “Clinical and experimental dermatology” This study reports a case of a child with congenital skin fragility, alopecia, and cardiomyopathy due to compound heterozygous mutations in the DSP gene causing desmoplakin deficiency.
34 citations
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February 2016 in “Fertility and Sterility” This study suggests that higher PDCD4 expression may play a significant role in polycystic ovary syndrome pathogenesis through its association with obesity, insulin resistance, lipid metabolism disorders, and increased granulosa cell apoptosis.
61 citations
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September 1994 in “Journal of Medical Genetics” This study found strong evidence linking a keratin gene anomaly to pachyonychia congenita, supporting its role in affecting skin, nails, hair, and mucosa.
April 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” The researchers reported that disrupting the RPGRIP1L gene in mice impaired desmosome function, causing skin blistering, and their findings suggest that PKCβII inhibition could help treat pemphigus.
June 2020 in “Journal of Investigative Dermatology” This study found that FDA-cleared devices for preparing platelet-rich plasma showed inconsistent product quality, with variable platelet counts and inadequate quality control performance, suggesting clinical improvement may not rely on platelet concentration.
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.
176 citations
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February 2006 in “Cancer Research” This study found that loss of Ptch1 function in mouse skin's basal cells is sufficient to rapidly induce tumors resembling human basal cell carcinoma, suggesting Ptch1 as a key tumor suppressor.
20 citations
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September 2023 in “Nutrients” In this study, a very-low-calorie diet led to greater weight loss and improvements in hyperandrogenaemia and metabolic markers in obese women with polycystic ovary syndrome compared to a moderate energy deficit approach over eight weeks.
October 2019 in “Al Mustansiriyah Journal of Pharmaceutical Sciences” This study found that the CTLA-4 gene polymorphism (rs733618) has no association with polycystic ovarian syndrome in the studied population.
January 2025 in “Iraqi Journal of Science” This study found that variations in the genes PDCD4, miR-21, and miR-449b may significantly influence breast cancer progression, with higher PDCD4 serum levels linked to increased breastfeeding.
18 citations
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January 2018 in “BMC dermatology” This paper describes a case of epidermolysis bullosa simplex with muscular dystrophy associated with a novel PLEC mutation and diffuse alopecia, highlighting a potential genetic link that remains uncertain.
January 2025 in “i-manager s Journal on Life Sciences” This review discusses PCOD's pathophysiology, clinical features, and management strategies but reports no new clinical findings, emphasizing the need for early diagnosis and multidisciplinary management.
June 2023 in “British Journal of Dermatology” This study reports a unique case of coinheritance of BRCA2 and CYLD pathogenic variants in a man with metastatic malignant cylindroma, suggesting that recognizing such genetic profiles in rare conditions can provide new treatment options, including the potential use of therapies targeting BRCA deficiency.
7 citations
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August 2017 in “Genetic testing and molecular biomarkers” This report suggests that patients with primary spontaneous pneumothorax should be evaluated for FLCN mutations, as they may indicate Birt-Hogg-Dube syndrome and associated cancer risks.
35 citations
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December 2017 in “Journal of Experimental Botany” In this study, CSLD3 overexpression in Arabidopsis enhanced root and hypocotyl growth by increasing cell elongation, with root growth highly sensitive to ethylene and phosphate starvation conditions.
47 citations
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March 2018 in “Journal of Pharmaceutical and Biomedical Analysis” This study identified 43 compounds in Platycladi Cacumen, including flavonoids, and found significant chemical variation in flavonoid content across different regions and processed products.
38 citations
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January 2016 in “Cell Death and Disease” This review discusses the role of the TCL1 transgenic mouse model in understanding chronic lymphocytic leukemia biology and highlights the importance of exploring new pathogenetic and therapeutic targets.
53 citations
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January 2011 in “Diabetes” The study found that severe insulin resistance and premature diabetes are common in patients with PCNT genetic defects, primarily affecting those over four years old, while not impacting early insulin signaling in adipocytes.
This study found that the transcription factor Lhx2 regulates Sonic Hedgehog signaling in mouse retinal progenitor cells, mainly by controlling the expression of co-receptors essential for effective pathway activation during early retinal neurogenesis.
87 citations
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March 2007 in “Biological Chemistry” In this study, targeted deletion of the stearoyl-CoA desaturase 1 gene in mice disrupted the epidermal lipid barrier, leading to increased water loss, impaired thermoregulation, and metabolic issues.
108 citations
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December 2003 in “Clinical breast cancer” The authors concluded that pegylated liposomal doxorubicin may offer comparable efficacy to conventional doxorubicin with reduced toxicity in metastatic breast cancer treatment.
March 2025 in “OncoTargets and Therapy” This study found that in circulating tumor cells from non-invasive liquid biopsies, the GG genotype of the CYP3A5 A6986G affects longer disease-free survival in DLBCL patients, highlighting the significance of circulating biomarkers for prognostic evaluation.
3 citations
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September 2015 in “Journal of Vascular Surgery” This study found that chemical lumbar sympathectomy with 5% phenol effectively treated idiopathic livedo reticularis in most patients, offering a potential long-lasting solution with repeatable efficacy upon recurrence.