Results 171 to 180 of about 781,120 (260)

A high-quality chromosome-level reference genome of Pulsatilla chinensis. [PDF]

Sci Data
Wang T, Zhang C, Ma X, Fu Y, Xiang Y, Wu C, Shen S, Liu Z, Deng K, Lin H, Song X.   +10 more
europepmc   +1 more source

Compound Heterozygote Friedreich Ataxia Patients With Covert Proximal FXN Gene Deletions

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We present Friedreich ataxia patients with frataxin gene deletions. Data and records were collected at the Children's Hospital of Philadelphia from patients enrolled in the FACOMS natural history study. Patients with proximal deletions initially diagnosed with only one GAA expanded allele had more severe disease than their homozygous expansion
Michael P. Lazaropoulos, Morgan C. Devore, Christina Lam, Courtney Park, Sanjay Bidichandani, David R. Lynch   +5 more
wiley   +1 more source

A reference genome for the rough limpet Lottia Scabra, an intertidal species from the northeastern Pacific. [PDF]

J Hered
Wutthituntisil N, Pedraza-Marrón CDR, DeBiasse MB, Escalona M, Fairbairn C, Marimuthu MPA, Nguyen O, Dawson MN.   +7 more
europepmc   +1 more source

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni, Cecile Pagan, Antony Citterio‐Quentin, Isabelle Rouvet, Giulia Dingeo, Cyril Hanin, Claudine Laurent‐Levinson, Samia Pichard, Bénédicte Héron, Clément Gourguechon, Daniele Mandia, Jerome Guitton, Carole Lacout, Nicolas Schleinitz, Florient Potier, Olivier Flabeau, Elsa Besse‐Pinot, Foudil Lamari, Magali Pettazzoni, Yann Nadjar   +19 more
wiley   +1 more source

From Permits to Samples: Addressing Key Challenges for High-Quality Reference Genome Generation in Europe. [PDF]

Mol Ecol Resour
Reichel K, Pohjoismäki J, Astrin JJ, Böhne A, Bortoluzzi C, Bužan E, Del Campo J, Ciofi C, Di-Nizo CB, Divakar PK, Greve C, Hampl V, Hilgers L, Laine VN, Leonard JA, Lozano-Fernandez J, Lukić Bilela L, Mazzoni CJ, McCartney AM, Melo-Ferreira J, Monteiro R, Oomen RA, Pavlek M, Pimenta J, Rindos M, Seehausen O, Tarieiev A, Tomasello S, Vinnere Pettersson O, Waterhouse RM, Weber AA, Zinenko O, de Guttry C.   +32 more
europepmc   +1 more source

Comprehensive Characterization of 98 Chinese Cases of Genetic Creutzfeldt‐Jakob Disease With T188K Mutation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To characterize the demographic, clinical, and laboratory features of the Chinese patients of genetic Creutzfeldt‐Jakob disease with T188K variant (T188K‐gCJD), the most common subtype of genetic prion diseases (gPrDs) in China. Methods In this nationwide retrospective study, data from 98 genetically confirmed T188K‐gCJD patients ...
Chun‐Jie Li, Dong‐Lin Liang, Li‐Ping Gao, Wei‐Wei Zhang, Wei Zhou, A. Ruhan, Bing Xu, Run‐Dong Cao, Kang Xiao, Cao Chen, Qi Shi, Xiao‐Ping Dong   +11 more
wiley   +1 more source

Chromosome-level reference genome for the common wall gecko (Tarentola mauritanica) enables comparative and functional studies in geckos. [PDF]

G3 (Bethesda)
Mochales-Riaño G, Marques V, Carretero MA, Rato C.   +3 more
europepmc   +1 more source

Uncovering G Protein‐Coupled Receptors: Novel Targets and Biomarkers for Predicting Glioma Prognosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Low‐grade gliomas (LGG) exhibit significant heterogeneity and recurrence risk. G protein‐coupled receptors (GPCR) contribute to glioma malignant progression, but their prognostic value remains unclear. This work attempts to formulate a GPCR‐based outcome‐predicting model for LGG. Methods Based on TCGA LGG data, the enrichment scores
Jun Yang, Dongxu Zhang, Dongyuan Liu, Da Lin, Hao Wang   +4 more
wiley   +1 more source

A chromosome-level reference genome of the surf parrotfish (Scarus rivulatus). [PDF]

Sci Data
Liang Y, Pan J, Xian L, Zhu K, Guo H, Liu B, Zhang N, Zhang D.   +7 more
europepmc   +1 more source

Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier, Ugo Sorrentino, Matias Wagner, Marta Zawadzka, Anna Lemska, Maria Mazurkiewicz‐Bełdzińska, Michael Zech   +6 more
wiley   +1 more source