Results 71 to 80 of about 5,408 (199)

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

Characterising splicing defects of ABCA4 variants within exons 13–50 in patient-derived fibroblasts [PDF]

, 2022
The ATP-binding cassette subfamily A member 4 gene (ABCA4)-associated retinopathy, Stargardt disease, is the most common monogenic inherited retinal disease.
Lima, A., Attia, M.S., Thompson, J.A., Wilton, S.D., De Roach, J.N., Fletcher, S., Chen, S-C, Chen, F.K., Zhang, D., Huang, D., McLaren, T.L., Pitout, I., Jeffery, R.C.H., Aung-Htut, M.T., Lamey, T.M., McLenachan, S., Adams, A.   +16 more
core  

ABCA4 mediated traumatic proliferative vitreoretinopathy associated with PI3K/Akt signaling pathway

Heliyon
Background: Proliferative vitreoretinopathy (PVR) is the main cause of retinal detachment. However, the underlying mechanism of PVR is complex and has not yet been fully elucidated.
Wang Menghua, Zhirou Hu
doaj   +1 more source

Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 disease.

PLoS Genetics, 2022
Over 1,500 variants in the ABCA4 locus cause phenotypes ranging from severe, early-onset retinal degeneration to very late-onset maculopathies. The resulting ABCA4/Stargardt disease is the most prevalent Mendelian eye disorder, although its underlying ...
Jana Zernant, Winston Lee, Jun Wang, Kerry Goetz, Ehsan Ullah, Takayuki Nagasaki, Pei-Yin Su, Gerald A Fishman, Stephen H Tsang, Santa J Tumminia, Brian P Brooks, Robert B Hufnagel, Rui Chen, Rando Allikmets   +13 more
doaj   +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

Novel variants of ABCA4 in Han Chinese families with Stargardt disease

BMC Medical Genetics, 2020
Background Stargardt disease (STGD1) is a common recessive hereditary macular dystrophy in early adulthood or childhood, with an estimated prevalence of 1:8000 to 1:10,000. ABCA4 is the causative gene for STGD1.
Fang-Yuan Hu, Feng-Juan Gao, Jian-kang Li, Ping Xu, Dan-Dan Wang, Sheng-Hai Zhang, Ji-Hong Wu   +6 more
doaj   +1 more source

Evolution of focal choroidal excavation in ABCA4-related retinopathy

American Journal of Ophthalmology Case Reports, 2022
Purpose: To report long-term evolution of unilateral focal choroidal excavation in a patient with ABCA4-related retinopathy. Observations: A 51-year-old female with ABCA4-related retinopathy developed a small juxtafoveal defect in Bruch's membrane in a ...
Matthew D. Benson, Carly B. Feldman, Wadih M. Zein   +2 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

Photoreceptor degeneration in ABCA4-associated retinopathy and its genetic correlates

JCI Insight, 2022
BACKGROUND Outcome measures sensitive to disease progression are needed for ATP-binding cassette, sub-family A, member 4–associated (ABCA4-associated) retinopathy.
Maximilian Pfau, Catherine A. Cukras, Laryssa A. Huryn, Wadih M. Zein, Ehsan Ullah, Marisa P. Boyle, Amy Turriff, Michelle A. Chen, Aarti S. Hinduja, Hermann E.A. Siebel, Robert B. Hufnagel, Brett G. Jeffrey, Brian P. Brooks   +12 more
doaj   +1 more source