Results 41 to 50 of about 2,902,010 (219)

A Deep Intronic Variant in LDLR in Familial Hypercholesterolemia

, 2018
BACKGROUND: Familial hypercholesterolemia (FH) is an inherited disorder characterized by high plasma LDL-C (low-density lipoprotein-cholesterol) levels. The vast majority of FH patients carry a mutation in the coding region of LDLR, APOB, or PCSK9.
Reeskamp, Laurens F., Defesche, Joep C., Hovingh, G. Kees, Zuurbier, Linda, Peter, Jorge, Dallinga-Thie, Geesje M., Grefhorst, Aldo, Hartgers, Merel L.   +7 more
core   +1 more source

Correction of the Splicing Defect Caused by a Recurrent Variant in ABCA4 (c.769-784C>T) That Underlies Stargardt Disease

Cells, 2022
Stargardt disease is an inherited retinal disease caused by biallelic mutations in the ABCA4 gene, many of which affect ABCA4 splicing. In this study, nine antisense oligonucleotides (AONs) were designed to correct pseudoexon (PE) inclusion caused by a ...
Tomasz Z. Tomkiewicz, Sara E. Nieuwenhuis, Frans P. M. Cremers, Alejandro Garanto, Rob W. J. Collin   +4 more
doaj   +1 more source

Unraveling synonymous and deep intronic variants causing aberrant splicing in two genetically undiagnosed epilepsy families

BMC Medical Genomics, 2021
Background Variants identified through parent–child trio-WES yield up to 28–55% positive diagnostic rate across a variety of Mendelian disorders, there remain numerous patients who do not receive a genetic diagnosis.
Qiang Li, Yiting Wang, Yijun Pan, Jia Wang, Weishi Yu, Xiaodong Wang   +5 more
doaj   +1 more source

Heterozygous deep-intronic variants and deletions in ABCA4 in persons with retinal dystrophies and one exonic ABCA4 variant

, 2015
Item does not contain fulltextVariants in ABCA4 are responsible for autosomal-recessive Stargardt disease and cone-rod dystrophy. Sequence analysis of ABCA4 exons previously revealed one causative variant in each of 45 probands. To identify the "missing"
Thiadens, A.A.H.J., Phan, M, Stone, EM, Zonneveld-Vrieling, MN, Cremers, F.P.M., Mutlu, M., Mutlu, M, Braun, T.A., Hoyng, C.B., Hoefsloot, LH, Klevering, BJ, Born, L.I. van den, Westeneng-van Haaften, S.C., Westeneng-van Haaften, C, Bax, N.M., de Wijs, I, Roosing, S, Klaver, C.C., Braun, TA, Klaver, Caroline, Klevering, B.J., Hoefsloot, L.H., Hoyng, C, Sangermano, R., Sangermano, R, Thiadens, Alberta, Cremers, FPM, Stone, E.M., Wijs, I. de, Hollander, AI, Phan, M., Zonneveld-Vrieling, M.N., Bax, NM, Hollander, A.I. den, van den Born, LI, Roosing, S.   +35 more
core   +1 more source

A deep intronic splice variant in COL1A1 causing osteogenesis imperfecta type II [PDF]

Osteogenesis imperfecta (OI) is a rare disease, hallmarked by bone fragility, multiple fractures, and deformities, and is commonly caused by pathogenic variants in the genes encoding type I collagen.
Santen, G.W.E., Schouw, M.E., Tuin, K. van der, Ruivenkamp, C.A.L., Nikkels, P.G.J., Koopmann, T.T.   +5 more
core   +5 more sources

From junk to function — How weak selection in eukaryotes builds new parts and drives genomic complexity

FEBS Letters, EarlyView.
How do genomes gain new functional parts? In eukaryotes, which tend to evolve under weak selection, much of the genome is junk. Palazzo and Qiu borrow the logic of Markov chains to show how non‐functional DNA becomes functional through the appearance of intermediate states, which arise due to epistasis, buffering, and biochemical messiness, allowing ...
Alexander F. Palazzo, Yi Qiu
wiley   +1 more source

Small RNA pathways in mammalian oocytes

FEBS Open Bio, EarlyView.
Three distinct small RNA pathways operate in mammalian oocytes: RNAi interference (RNAi), the microRNA (miRNA) pathway, and the PIWI‐associated RNA (piRNA) pathway. These pathways use small RNAs to guide sequence‐specific repression and contribute to oocyte biology by targeting genes and mobile elements or appear insignificant since different ...
Petr Svoboda, Josef Pasulka
wiley   +1 more source

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +1 more source

Generation of a human induced pluripotent stem cell line (NRIFPi001-A) derived from a patient with phenylketonuria (PKU) harboring compound heterozygous variant (c.1199 + 502A＞T and c.728G＞A) in PAH gene

Stem Cell Research
Pathogenic variants in the phenylalanine hydroxylase (PAH) gene cause phenylketonuria (PKU), a disorder characterized by neurotoxicity and impaired postnatal cognitive development.
Yu Wang, Lisha An, Huimin Gao, Chuan Zhang, Lin Wang, Yanping Zhang, Lu Zhang, Yousheng Yan, Xiaohua Jin, Xu Ma   +9 more
doaj   +1 more source

An augmented ABCA4 screen targeting noncoding regions reveals a deep intronic founder variant in Belgian Stargardt patients

, 2015
Autosomal-recessive Stargardt disease (STGD1) is hallmarked by a large proportion of patients with a single heterozygous causative variant in the disease gene ABCA4. Braun et al.
Weisschuh, Nicole, De Baere, Elfride, Leroy, Bart B.P., Bauwens, Miriam, De Rademaeker, Marjan, De Ravel, Thomy, Leroy, Bart P., Dahan, Karin, Meire, Françoise, Depasse, Fanny, Coppieters, Frauke, De Zaeytijd, Julie, Kohl, Susanne, De Jaegere, Sarah, Leroy, Bart, Loeys, Bart   +15 more
core   +1 more source