Results 61 to 70 of about 2,525,884 (192)

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

ABCA4-Associated Stargardt Disease

, 2020
Contains fulltext : 218259.pdf (Publisher’s version ) (Open Access)Autosomal recessive Stargardt disease (STGD1) is associated with variants in the ABCA4 gene.
Khan, M., Cremers, F.P.M., Cremers, F.
core   +1 more source

Mutation Spectrum of the ABCA4 Gene in a Greek Cohort with Stargardt Disease: Identification of Novel Mutations and Evidence of Three Prevalent Mutated Alleles

Journal of Ophthalmology, 2018
Aim. To evaluate the frequency and pattern of disease-associated mutations of ABCA4 gene among Greek patients with presumed Stargardt disease (STGD1). Materials and Methods.
Kamakari Smaragda, Kokkinou Vassiliki, Koutsodontis George, Stamatiou Polixeni, Giatzakis Christoforos, Anastasakis Anastasios, Aslanides Ioannis Minas, Koukoula Stavrenia, Panagiotoglou Theoni, Datseris Ioannis, Tsilimbaris K. Miltiadis   +10 more
doaj   +1 more source

Updating the Genetic Landscape of Inherited Retinal Dystrophies

Frontiers in Cell and Developmental Biology, 2021
Inherited retinal dystrophies (IRD) are a group of diseases characterized by the loss or dysfunction of photoreceptors and a high genetic and clinical heterogeneity.
Belén García Bohórquez, Belén García Bohórquez, Elena Aller, Elena Aller, Elena Aller, Ana Rodríguez Muñoz, Ana Rodríguez Muñoz, Teresa Jaijo, Teresa Jaijo, Teresa Jaijo, Gema García García, Gema García García, José M. Millán, José M. Millán   +13 more
doaj   +1 more source

ABCA4‐Associated Retinal Degeneration in 8 Families From the Three Provinces of Northeast China: Identification and Characterization of Potentially Novel Variants

Molecular Genetics &Genomic Medicine, Volume 14, Issue 7, July 2026.
This study reports the documented case of ABCA4‐associated early‐onset severe retinal dystrophy in China, broadens the mutational spectrum of ABCA4 in this population, and highlights distinct genotype–phenotype correlations that may inform clinical management and genetic counseling.
Nian Li, Linlin Su, Yue Ren, Ye Liu, Jiayuan Ge, Henan Sun, Zhuoshi Wang   +6 more
wiley   +1 more source

A Comprehensive Review of the Genetic Etiology and Management of Orofacial Clefts

Pediatric Discovery, Volume 4, Issue 2, June 2026.
ABSTRACT Cleft lip (CL) and cleft palate (CP), collectively referred to as orofacial clefts (OFCs), are among the most common birth defects and can have significant effects on speech, nutrition, and physical and psychosocial development. Manifestation, classification, and treatment plans of OFCs are diverse and not standardized.
Emily Kim, Rebeka Dejenie, Caroline Kim, Russell Reid   +3 more
wiley   +1 more source

Upregulation of sphingomyelin and ABCA8 in response to TDP‐43 pathology in amyotrophic lateral sclerosis brain

Brain Pathology, Volume 36, Issue 3, May 2026.
Increases in sphingomyelin in response to TDP‐43 pathology in the disease‐affected motor cortex of amyotrophic lateral sclerosis (ALS) brain. Abstract Amyotrophic lateral sclerosis (ALS) is a rapidly progressing neurodegenerative disease characterized by the degeneration of motor neurons and the presence of TAR DNA‐binding protein 43 (TDP‐43 ...
Finula I. Isik, Russell Pickford, Nicolas Dzamko, Kerry‐Anne Rye, Woojin Scott Kim   +4 more
wiley   +1 more source

Exome sequencing analysis identifies compound heterozygous mutation in ABCA4 in a Chinese family with Stargardt disease. [PDF]

PLoS ONE, 2014
Stargardt disease is the most common cause of juvenile macular dystrophy. Five subjects from a two-generation Chinese family with Stargardt disease are reported in this study. All family members underwent complete ophthalmologic examinations. Patients of
Yu Zhou, Siyu Tao, Hui Chen, Lulin Huang, Xiong Zhu, Youping Li, Zhili Wang, He Lin, Fang Hao, Zhenglin Yang, Liya Wang, Xianjun Zhu   +11 more
doaj   +1 more source

Expanding Access to Genome Sequencing: Higher Diagnostic Yield in Self‐Referred Participants From the CincyKidsSeq Study and Implications for Hybrid Models of Genetic Service Delivery

Clinical Genetics, Volume 109, Issue 4, Page 717-724, April 2026.
Genome sequencing helped find answers for 1 in 5 children with rare conditions in an outpatient study looking at hybrid genetic care delivery. Families who chose testing themselves had the highest diagnostic yield, showing that self‐referral may be a helpful way to improve access to genetic care.
Kristin Theobald, Amelle Shillington, Farrah Jackson, Jaime Lopes, Casey J. Brewer, Brian Dawson, Gang Wu, James Denton, Mike Pauciulo, Xue Zhang, Anne Slavotinek   +10 more
wiley   +1 more source

Characterizing Stargardt disease-causing mutations to identify ABCA4 gene lesions amenable to splice intervention therapeutics [PDF]

, 2021
Stargardt disease (STGD1, OMIM: 248200) is an autosomal recessive retinal dystrophy, characterized by bilateral progressive central vision loss and subretinal deposition of lipofuscin-like substances.
Huang, Di
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