Results 71 to 80 of about 3,708 (153)

Whole-Genome Sequencing of Invasion-Resistant Cells Identifies Laminin α2 as a Host Factor for Bacterial Invasion

mBio, 2017
To understand the role of glycosaminoglycans in bacterial cellular invasion, xylosyltransferase-deficient mutants of Chinese hamster ovary (CHO) cells were created using clustered regularly interspaced short palindromic repeat (CRISPR) and CRISPR ...
Xander M. van Wijk, Simon Döhrmann, Björn M. Hallström, Shangzhong Li, Bjørn G. Voldborg, Brandon X. Meng, Karen K. McKee, Toin H. van Kuppevelt, Peter D. Yurchenco, Bernhard O. Palsson, Nathan E. Lewis, Victor Nizet, Jeffrey D. Esko   +12 more
doaj   +1 more source

Integrative multi‐omics analysis prioritizes DPEP1 as a genetically supported candidate associated with skin cancer risk

Clinical and Translational Discovery, Volume 6, Issue 4, August 2026.
Flowchart of the study design outlining target identification, validation, and subsequent functional and translational characterization. Abstract Background Skin cancer (SC) is among the most prevalent malignancies, yet causal circulating proteins and tractable therapeutic targets remain poorly defined.
Fan Shen, Yongkai Yu, Zongfeng Liao, Liye Mao, Qianyun Wang, Wanju Wang, Yuanhui Liu, Ling Li   +7 more
wiley   +1 more source

Linker Protein Repair of LAMA2 Dystrophic Neuromuscular Basement Membranes

Frontiers in Molecular Neuroscience, 2019
An understanding of basement membrane (BM) assembly at a molecular level provides a foundation with which to develop repair strategies for diseases with defects of BM structure.
Peter D. Yurchenco, Karen K. McKee
doaj   +1 more source

Delivery Systems for Therapeutic Genome Editing: Challenges, Innovations, and Future Perspectives

MedComm, Volume 7, Issue 7, July 2026.
Schematic illustration of four emerging CRISPR–Cas delivery platforms defined by distinct design principles and structural features: virus‐mimicking nanosystems (e.g., VLPs), cell‐derived extracellular vesicles, cell‐penetrating peptides, and stimuli‐responsive scaffolds. These platforms enable spatiotemporally controlled delivery of RNPs, mRNA, or DNA
Meijia Yang, Yiqiong Song, Ziyang Wang, Ke Chao, Lifeng Li, Xu Zhang, Xiaoran Duan, Chenglong Yu, Ruyue Xue, Jie Zhao   +9 more
wiley   +1 more source

Variable disease severity in Saudi Arabian and Sudanese families with c.3924 + 2 T > C mutation of LAMA2

BMC Research Notes, 2011
Background Congenital muscular dystrophy type 1A is caused by mutations in the LAMA2 gene that encodes the laminin α2 chain, a component of the skeletal muscle extracellular matrix protein laminin-211.
Di Blasi Claudia, Bellafiore Emanuela, Salih Mustafa AM, Manzini M Chiara, Moore Steven A, Seidahmed Mohammed Z, Mukhtar Maowia M, Karrar Zein A, Walsh Christopher A, Campbell Kevin P, Mantegazza Renato, Morandi Lucia, Mora Marina   +12 more
doaj   +1 more source

Impaired Regeneration in Dystrophic Muscle—New Target for Therapy

Frontiers in Molecular Neuroscience, 2020
Muscle stem cells (MuSCs), known as satellite cells (SCs) have an incredible ability to regenerate, which enables the maintenance and growth of muscle tissue.
Nurit Yanay, Nurit Yanay, Malcolm Rabie, Malcolm Rabie, Yoram Nevo, Yoram Nevo   +5 more
doaj   +1 more source

Congenital Myopathies and Muscular Dystrophies: A Single Tertiary Center Experience and Factors Associated With Long‐Term Outcomes

Muscle &Nerve, Volume 74, Issue 1, Page 121-130, July 2026.
ABSTRACT Introduction/Aims Data on respiratory, feeding, ambulatory outcomes and prognostic factors for congenital myopathies (CM) and congenital muscular dystrophies (CMD) remain limited. Therefore, in this study, we report the characteristics of a large single‐center cohort of patients with CM and CMD, focusing on long‐term outcomes and aiming to ...
Can Ozlu, Margaret McGurn, Susan Iannaccone, Zurisadai Gonzalez Castillo, Kaitlin Batley   +4 more
wiley   +1 more source

Targeted next generation sequencing reveals a novel intragenic deletion of the LAMA2 gene in a patient with congenital muscular dystrophy

Molecular Medicine Reports, 2014
Mutations in the LAMA2 gene cause laminin α‑2 (merosin)‑deficient congenital muscular dystrophies, which are autosomal recessive muscle disorders. Laminin α‑2 is widely expressed in the basement membrane of skeletal muscle, the myotendinous junctions and extra‑synaptically at neuromuscular synapses.
Yun, Yang, Bing, Mao, Lixia, Wang, Liangwei, Mao, Aifen, Zhou, Jiangxia, Cao, Jiasheng, Hu, Yan, Zhou, Yanhong, Pan, Xiaoming, Wei, Shuang, Yang, Feng, Mu, Zhisheng, Liu   +12 more
openaire   +3 more sources

RNA analysis of intronic variants in the LAMA2 gene detected by whole genome sequencing confirms a rare dual diagnosis of incontinentia pigmenti with limb-girdle muscular dystrophy. [PDF]

Clin Case Rep, 2023
Washington C, Stolerman ES, Cooley-Coleman JA, Jones JR, Chen-Deutsch X.   +4 more
europepmc   +1 more source

Identification of Two Novel LAMA2 Mutations in a Chinese Patient with Congenital Muscular Dystrophy

Frontiers in Genetics, 2018
Merosin-deficient CMD type 1A (MDC1A), caused by mutations of laminin subunit alpha 2 (LAMA2), is a predominant subtype of congenital muscular dystrophy (CMD).
Jing Zhou, Jianxin Tan, Dingyuan Ma, Jingjing Zhang, Jian Cheng, Chunyu Luo, Gang Liu, Yuguo Wang, Zhengfeng Xu   +8 more
doaj   +1 more source