Results 101 to 110 of about 10,935,683 (291)

Exon 7 splicing of ERα predicts poor prognosis and increases phenotypic heterogeneity in luminal a subtype breast cancer

open access: yesFEBS Open Bio, EarlyView.
ERα splice variant ERα∆7 lacks the C‐terminus, and its expression may change phenotypes of breast cancers. Our results showed that ERα∆7 is found in the luminal A subtype, and elevated ERα∆7 levels are linked to improved cell survival with lower proliferation and migration.
Long Wai Tsui   +10 more
wiley   +1 more source

Factors Associated With Receipt of Preventive Dental Treatment Procedures Among Adult Patients at a Dental Training School in Wisconsin, 2001-2002 [PDF]

open access: yes, 2009
Background: Gender differences in oral health-related quality of life and the fear of dental pain in seeking and receiving preventive dental care have been recognized and documented. Preventive dental treatment procedures (PDTPs) are commonly accepted as
Bajorunaite, Ruta   +4 more
core   +1 more source

Diversity of functional alterations of the ClC‐5 exchanger in the region of the proton glutamate in patients with Dent disease 1

open access: yesHuman Mutation, 2020
Mutations in the CLCN5 gene encoding the 2Cl−/1H+ exchanger ClC‐5 are associated with Dent disease 1, an inherited renal disorder characterized by low‐molecular‐weight (LMW) proteinuria and hypercalciuria.
Imene B. Sakhi   +7 more
semanticscholar   +1 more source

Quantitative proteomic analysis reveals different characteristics of bladder cancer cells after exposure to bisphenol A

open access: yesFEBS Open Bio, EarlyView.
Bisphenol A (BPA), a common chemical in plastics, exerts dual effects on bladder cancer cells: low doses promote growth and migration, while high doses suppress growth and migration. Multi‐omics and bioinformatics reveal BPA acts via MAPK and inflammatory pathways.
Shaomin Niu   +10 more
wiley   +1 more source

Comprehensive Splice Pattern Analysis for Previously Reported OCRL Splicing Variants and Their Phenotypic Contributions

open access: yesKidney International Reports
Introduction: Two distinct phenotypes of Dent disease-2 and Lowe syndrome are caused by oculocerebrorenal syndrome of Lowe (OCRL) abnormality. Previous genetic studies demonstrated that truncating variants in exons 1 to 7 results in Dent disease-2 and in
Rini Rossanti   +15 more
doaj   +1 more source

The Lowe syndrome protein OCRL1 is required for endocytosis in the zebrafish pronephric tubule.

open access: yesPLoS Genetics, 2015
Lowe syndrome and Dent-2 disease are caused by mutation of the inositol 5-phosphatase OCRL1. Despite our increased understanding of the cellular functions of OCRL1, the underlying basis for the renal tubulopathy seen in both human disorders, of which a ...
Francesca Oltrabella   +7 more
doaj   +1 more source

Clinical Practice Guideline for Evaluation and Management of Peripheral Nervous System Manifestations in Sjögren's Disease

open access: yesArthritis Care &Research, EarlyView.
Objective Sjögren's disease is an autoimmune disorder that can impact multiple organ systems, including the peripheral nervous system (PNS). PNS manifestations, which can exist concurrently, include mononeuropathies, polyneuropathies, and autonomic nervous system neuropathies.
Anahita Deboo   +88 more
wiley   +1 more source

Genetic and pathological findings in a boy with psoriasis and C3 glomerulonephritis: A case report and literature review

open access: yesMolecular Genetics & Genomic Medicine, 2020
Background Psoriasis is a chronic inflammatory dermatosis with complex genetic basis supported by family investigation. Renal involvement in psoriasis is sparsely studied and its pathogenesis is still unclear.
Lei Wei   +8 more
doaj   +1 more source

Meeting report: a hard look at the state of enamel research. [PDF]

open access: yes, 2017
The Encouraging Novel Amelogenesis Models and Ex vivo cell Lines (ENAMEL) Development workshop was held on 23 June 2017 at the Bethesda headquarters of the National Institute of Dental and Craniofacial Research (NIDCR).
Bartlett, John D   +13 more
core   +1 more source

OCRL deficiency impairs endolysosomal function in a humanized mouse model for Lowe syndrome and Dent disease

open access: yesHuman Molecular Genetics, 2018
Mutations in OCRL encoding the inositol polyphosphate 5-phosphatase OCRL (Lowe oculocerebrorenal syndrome protein) disrupt phosphoinositide homeostasis along the endolysosomal pathway causing dysfunction of the cells lining the kidney proximal tubule (PT)
Beatrice Paola Festa   +14 more
semanticscholar   +1 more source

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