Results 61 to 70 of about 3,094 (152)

Human Islet miR‐199a‐5p and miR‐214‐3p Associate With Donor Age, BMI, and Sex and Mediate Cellular Aging in Islet‐Derived Cells

Acta Physiologica, Volume 242, Issue 8, August 2026.
ABSTRACT Objectives Human islets are widely researched to understand pathophysiological mechanisms leading to diabetes. Sex, age, and body mass index (BMI) are key donor traits influencing islet function, which is also regulated by an intricate network of microRNAs.
Wilson K. M. Wong, Isabelle El‐Azzi, Aditya Nachanekar, Ehsan Alvandi, Nhan Ho Trong Pham, Hrishikesh P. Hardikar, Mya Polkamp, Vijit Saini, Feifei Cheng, Guozhi Jiang, Anja E. Sørensen, Yi Vee Chew, Helen E. Thomas, Thomas Loudovaris, Ronald C. W. Ma, Wayne J. Hawthorne, Louise T. Dalgaard, Mugdha V. Joglekar, Anandwardhan A. Hardikar   +18 more
wiley   +1 more source

Expression of ABCC1 and ABCC6 in MCF7VP cells, Fig. 3A.

, 2012
Up-regulation of ABCC1 in MCF7VP cells validated by qRT-PCR. The gene expression level of ABCC1 was found to be up-regulated in the MCF7VP cell line using microfluidic arrays, this was validated using quantitative RT PCR with taqman probes against ABCC1.
Alexander Borsa (136634), Ram Savan (136641), Da Wei Huang (47353), Richard A. Lempicki (17050), Karobi Moitra (136627), Susan Bates (136646), Julie Sawitzke (136636), Rob Robey (136638), Kate Im (136630), Michael Dean (17049), Katy Limpert (136632), Naoya Yuhki (26789)   +11 more
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Clinical and subclinical findings in heterozygous ABCC6 carriers : results from a Belgian cohort and clinical practice guidelines

, 2021
Background: Biallelic pathogenic variants in the ATP-binding cassette subfamily C member 6 (ABCC6) gene cause pseudoxanthoma elasticum, a multisystemic ectopic calcification disorder, while heterozygous ABCC6 variants are associated with an increased ...
Coucke, Paul, Nollet, Lukas, Vanakker, Olivier, De Zaeytijd, Julie, Hemelsoet, Dimitri, Campens, Laurence, Leroy, Bart, Lukas Nollet, Dimitri Hemelsoet, Bart Leroy, Laurence Campens, Paul J Coucke, Olivier M Vanakker, Julie De Zaeytijd   +13 more
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Vascular Calcification: Mechanisms, Models, and Therapies

iNew Medicine, Volume 2, Issue 2, June 2026.
ABSTRACT Vascular calcification represents an active multifactorial process that mirrors several key features of skeletal bone mineralization. Clinically, it is characterized by diminished arterial compliance and increased arterial wall stiffness, both of which serve as independent predictors of significant adverse cardiovascular events.
Wenya Zhu, Shu Yang, Ziyi Chen, Xiaoxiao Yang, Zhen Liang, Yuanli Chen   +5 more
wiley   +1 more source

Detailed Phenotype Supports Pathogenicity of Hypomorphic Variant in ABCC6-Associated Pattern Dystrophy

Case Reports in Ophthalmology
Introduction: We report a case of pseudoxanthoma elasticum (PXE) with an atypical phenotype likely related to a hypomorphic variant in ABCC6. Case Presentation: A 66-year-old Caucasian female with a history of a maculopathy interpreted as either age ...
Jonathan C. Tsui, Tomas S. Aleman, Paul J. Tapino, Benjamin J. Kim   +3 more
doaj   +1 more source

Therapeutic Strategies to Overcome Payload Resistance of Trastuzumab Deruxtecan in HER2‐Positive Cancers

Cancer Science, Volume 117, Issue 4, Page 996-1009, April 2026.
Overexpression of ABC transporters, especially ABCG2 and ABCB1, mediates acquired resistance to T‐DXd in HER2‐positive cancers. Inhibition of these transporters restored T‐DXd efficacy, highlighting efflux‐mediated resistance as a potential therapeutic target. ABSTRACT Antibody–drug conjugates (ADCs) are emerging as a promising class of targeted cancer
Yuya Murase, Shigeki Nanjo, Sachiko Arai, Sota Kondo, Hayato Koba, Yifeng Liu, Koji Fukuda, Shigeki Sato, Jun Kinoshita, Noriyuki Inaki, Tsukasa Ueda, Shunichi Nomura, Yuichi Tambo, Takahiro Shimizu, Masafumi Horie, Daichi Maeda, Richard W. Wong, Kazuyoshi Hosomichi, Takafumi Kobayashi, Satoshi Watanabe, Kenta Yamamura, Noriyuki Ohkura, Miki Abo, Seiji Yano   +23 more
wiley   +1 more source

ABCC6 Deficiency Promotes Development of Randall Plaque [PDF]

, 2018
International audienceBackground: Pseudoxanthoma elasticum (PXE) is a genetic disease caused by mutations in the ABCC6 gene that result in low pyrophosphate levels and subsequent progressive soft tissue calcifications. PXE mainly affects the skin, retina,
Clément Gay, E. Letavernier, C. Gay, Michel Daudon, Léa Delaitre, Gay, Clément, Le Saux, Olivier, Emmanuel Letavernier, L. Martin, Nastassia Navasiolava, Ludovic Martin, M. Daudon, N. Navasiolava, Gilles Kauffenstein, Dominique Bazin, de Frutos, Marta, Perez, Joëlle, Léa Huguet, M.C. Verpont, Tang, Ellie, Olivier Le Saux, G. Kauffenstein, M. de Frutos, D. Bazin, Leftheriotis, Georges, Letavernier, Emmanuel, Martin, Ludovic, Ellie Tang, Janna Zoll, Joëlle Perez, L. Huguet, Jean-Philippe Haymann, Marie-Christine Verpont, Verpont, Marie-Christine, E. Tang, Zoll, Janna, Kauffenstein, Gilles, Pomozi, Viola, J.P. Haymann, J. Perez, Haymann, Jean-Philippe, Delaitre, Léa, Bouderlique, Elise, E. Bouderlique, Viola Pomozi, Georges Leftheriotis, Navasiolava, Nastassia, Bazin, Dominique, J. Zoll, Elise Bouderlique, Daudon, Michel, L. Delaitre, O. Le Saux, V. Pomozi, Marta de Frutos, G. Lefthériotis, Huguet, Léa   +56 more
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Pseudoxanthoma elasticum

Orphanet Journal of Rare Diseases, 2017
Pseudoxanthoma elasticum (PXE) is a genetic metabolic disease with autosomal recessive inheritance caused by mutations in the ABCC6 gene. The lack of functional ABCC6 protein leads to ectopic mineralization that is most apparent in the elastic tissues of
Dominique P. Germain
doaj   +1 more source

A novel ABCC6 variant causative of pseudoxanthoma elasticum [PDF]

, 2019
Pseudoxanthoma elasticum is an autosomal recessive heritable disorder caused by mutations in ABCC6. We describetwo siblings showing typical skin lesions and a clinical diagnosis of pseudoxanthoma elasticum.
Hladnik U, Fabiani F, Enzo MV, NISTICO' SP, Contrò G, Colao E, Dattilo V, Dastoli S, Tallerico R, Perrotti N, Iuliano R.   +10 more
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Copy Number Variants and Their Association With Intracerebral Hemorrhage Risk: A Case–Control Study

Annals of Clinical and Translational Neurology, Volume 13, Issue 3, Page 530-536, March 2026.
ABSTRACT Introduction Intracerebral Hemorrhage (ICH) is a leading cause of morbidity and mortality worldwide and lacks effective therapeutic interventions. Despite previous studies, the genetic underpinnings of ICH remain poorly understood. We sought to investigate the role of copy number variants (CNVs) in ICH pathophysiology to identify novel ...
Savvina Prapiadou, Carl D. Langefeld, Padmini Sekar, Mary Comeau, Timothy Howard, Tamara N. Kimball, Chen Bowang, Hyacinth I. Hyacinth, Jonathan Rosand, Christopher D. Anderson, Caspar Grond‐Ginsbach, Daniel Woo, Stacie L. Demel   +12 more
wiley   +1 more source