Results 221 to 230 of about 1,762,314 (335)

A Novel CHMP2B Splicing Variant in Atypical Presentation of Familial Frontotemporal Lobar Degeneration

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra, Sara Bernal, David Almenta, Josefina Pérez‐Blanco, Valle Camacho, Isabel Sala, Mª Belén Sánchez‐Saudinós, Jesús García Castro, Judit Selma‐González, Miguel Ángel Santos‐Santos, Álvaro Carbayo, Janina Turon‐Sans, Ricard Rojas‐Garcia, Daniel Alcolea, Juan Fortea, Alberto Lleó, Oriol Dols‐Icardo, Ignacio Illán‐Gala   +17 more
wiley   +1 more source

Atypical regions in large genomic DNA sequences. [PDF]

, 1994
Stephen W. Scherer, Mary Sara McPeek, Terence P. Speed   +2 more
openalex   +1 more source

BCS1L‐Associated Disease: 5′‐UTR Variant Shifts the Phenotype Towards Axonal Neuropathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives To investigate the consequences of a pathogenic missense variant (c.838C>T; p.L280F) and a 5′‐UTR regulatory variant (c.‐122G>T) in BCS1L on disease pathogenesis and to understand how regulatory variants influence disease severity and clinical presentation.
Rotem Orbach, Nunziata Maio, Russell J. Butterfield, A. Reghan Foley, Sarah Silverstein, Yan Li, Katherine Chao, Tanya J. Lehky, Abigail Potticary, Tracey A. Rouault, Sandra Donkervoort, Carsten G. Bönnemann   +11 more
wiley   +1 more source

Label-Free Surface-Enhanced Raman Scattering for Genomic DNA Cytosine Methylation Reading. [PDF]

Molecules
Alom KM, Tukova A, Lyu N, Rodger A, Wang Y.   +4 more
europepmc   +1 more source

A Novel C19orf47‐AKT2 Chimeric RNA Generated by Cis‐Splicing of Adjacent Genes Is Associated With Glioblastoma Prognosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Malignant gliomas pose significant therapeutic challenges. This study aimed to identify and characterize a novel chimeric RNA in glioma and assess its clinical and functional significance for precision treatment. Methods The C19orf47‐AKT2 chimeric RNAs were identified through RNA sequencing and validated by polymerase chain reaction.
Zihan Wang, Bowen Ni, Kezhi Wu, Qi Zhang, Jinglin Guo, Runwei Yang, Ziyu Wang, Guozhong Yi, Guanglong Huang, Minyi He, Yimin Xu, Yawei Liu   +11 more
wiley   +1 more source

Correction: A Mg²⁺-dependent high-yield method for extracting high-molecular-weight genomic DNA from a single planarian specimen. [PDF]

BMC Genomics
Li A, Sun B, Zhang Y, Yu P, Qu J, Deng H, Pang Q, Yang F.   +7 more
europepmc   +1 more source

A genomic sequencing protocol that yields a positive display of 5-methylcytosine residues in individual DNA strands.

, 1992
Marianne Frommer, Louise E. McDonald, David Millar, Christina M. Collis, Fujiko Watt, G. W. GRIGG, Peter L. Molloy, Cheryl Paul   +7 more
openalex   +1 more source

Isolation of estrogen receptor-binding sites in human genomic DNA [PDF]

, 1991
Satoshi Inoue, Shigeru Kondo, Makoto Hashimoto, Takashi Kondo, Masami Muramatsu   +4 more
openalex   +1 more source

Durable B‐Cell Impairment While Sparing IgA B Cells After Ocrelizumab Therapy in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Ocrelizumab (OCR), a humanized anti‐CD20 monoclonal antibody, is highly efficient in relapsing–remitting multiple sclerosis (RR‐MS). We assessed early cellular B‐cell profiles in patients prior to OCR treatment, on OCR treatment, and after 15 months of therapy discontinuation.
Alexandra Garcia, Stephane Rodriguez, Emilie Dugast, Christine Lebrun‐Frenay, Eric Thouvenot, Jérôme de Sèze, Emmanuelle Le Page, Sandra Vukusic, Inès Doghri, Eric Berger, Olivier Casez, Pierre Labauge, Aurélie Ruet, Catarina Raposo, Fabienne Le Frère, Arnaud B. Nicot, Sandrine Wiertlewski, Pierre‐Antoine Gourraud, Laure Michel, Laureline Berthelot, David‐Axel Laplaud   +20 more
wiley   +1 more source

A reciprocal relationship between markers of genomic DNA damage and alpha-synuclein pathology in dementia with Lewy bodies. [PDF]

Mol Neurodegener
Koss DJ, Todd O, Menon H, Anderson Z, Yang T, Findlay L, Graham B, Palmowski P, Porter A, Morrice N, Walker L, Attems J, Ghanem SS, El-Agnaf O, LeBeau FE, Erskine D, Outeiro TF.   +16 more
europepmc   +1 more source