Results 1 to 10 of about 3,708 (168)

Fenfluramine in SCN1A-related GEFS+: A multicenter observational study on efficacy, EEG improvement, and tolerability. [PDF]

Epilepsia Open
Abstract The SCN1A gene is implicated in a broad spectrum of epilepsy phenotypes, ranging from self‐limited genetic epilepsy with febrile seizures plus (GEFS+) to severe developmental and epileptic encephalopathies such as Dravet syndrome (DS). While fenfluramine (FFA) has demonstrated strong efficacy in DS, its role in SCN1A‐related epilepsies beyond ...
Dell'Isola GB, Muda A, Giordano L, Guerrini R, Boncristiano A, Pietrafusa N, Polselli M, Bisulli F, Ragona F, Riva A, Striano P, Battaglia DI, Vigevano F.   +12 more
europepmc   +2 more sources

A de novo variant of the COL3A1 gene: causality of vascular Ehlers-Danlos syndrome [PDF]

Advances in Laboratory Medicine
To establish diagnosis of vascular Ehlers-Danlos syndrome (VEDS) through genetic testing. This syndrome is characterized by muscle and arterial ruptures and a tendency to easy brusing, thin skin with visible veins and acrogeric facial features that may ...
Gutiérrez Romero Estrella, Padilla Apuntate Nuria, Izquierdo Álvarez Silvia   +2 more
doaj   +2 more sources

Mutation Spectrum of Hemoglobinopathies in Tunisia. [PDF]

Hum Mutat
Introduction Hemoglobinopathies are the most prevalent recessive disorders worldwide, characterized by wide molecular and clinical heterogeneity. They result from mutations within the alpha‐, beta‐, or delta‐globin gene leading to aberrant expression or protein function. These abnormalities are widely spread throughout the Mediterranean basin.
Moumni I, Khalfaoui K, Chebbi M, Chaouch L, Ouragini H, Chaouechi D, Mellouli F, Ouederni M, Benkhaled M, Abbes S, Menif S.   +10 more
europepmc   +2 more sources

GENETIC RECOMBINATION AND HETEROZYGOSIS IN BACTERIOPHAGE

Cold Spring Harbor Symposia on Quantitative Biology, 1951
In this paper we summarize the principal features of inheritance in the bacteriophage T2H, and describe some new experiments. The genetic structure of this virus has been analyzed in terms of mutational patterns (Hershey, 1946) and by recombination tests (Hershey and Rotman, 1949).
A D Hershey
exaly   +3 more sources

CLN5 in heterozygosis may protect against the development of tumors in a VHL patient [PDF]

Orphanet Journal of Rare Diseases, 2020
Von Hippel-Lindau syndrome (VHL) is a rare disease of dominant inheritance that increases susceptibility to tumor development, with a complete penetrance at the age of 60.
Isabel de Rojas-P, Virginia Albiñana, Lucía Recio-Poveda, Amanda Rodriguez-Rufián, Ángel M. Cuesta, Luisa-María Botella   +5 more
doaj   +4 more sources

Functional, biochemical, and clinical characterization of natural mutations affecting arginine residues in the heparin-binding site of antithrombin. [PDF]

Hemasphere
Abstract Arginine residues in antithrombin are essential for heparin binding and for the activation of this key anticoagulant serpin. Mutations affecting these residues may cause antithrombin deficiency, specifically Type II heparin‐binding site (HBS) defects, and increase the risk of thrombosis.
Cifuentes-Riquelme R, de la Morena-Barrio ME, Miñano A, Garrido-Rodríguez P, Velasco F, Rojo-Carrillo JJ, López-Correas P, Zaragoza-Huesca D, Padilla J, Lozano ML, Bravo-Pérez C, Corral J.   +11 more
europepmc   +2 more sources

Chromosome structure in phage T4, II. Terminal redundancy and heterozygosis. [PDF]

Proceedings of the National Academy of Sciences of the United States of America, 1965
In a previous communnication' it was suggested that the chromosome of each particle of phage T4 is terminally redundant, and that after several rounds of replication (following infection), progeny chromosomes arise which have circularly permuted genetic sequences.
J Sechaud, G Streisinger, Stahl M M
exaly   +3 more sources

Fatal familial insomnia with a Lewy‐like presentation [PDF]

Alzheimers Dement
Abstract Background Fatal Familial Insomnia (FFI) is a rare autosomal dominant prion disease. Herein, we present a case of a patient who was diagnosed with FFI, with symptoms initially resembling dementia with Lewy bodies (DLB). Method A 48‐year‐old Brazilian male with a six‐year history of insomnia presented with rapidly progressive dementia with ...
Teixeira M, Gomes A, Epifanio H, Vaz C, Scherer P, Brucki S, Bor‐Seng‐Shu E.   +6 more
europepmc   +2 more sources

Prediction of progression to dementia in individuals with subjective cognitive decline [PDF]

Alzheimers Dement
Abstract Background Identifying Subjective Cognitive Decline (SCD) patients at increased dementia risk is essential for accurate prognosis, and their potential selection for novel disease‐modifying therapies clinical trials, enabling the inclusion of early stages of neurodegenerative diseases.
Sánchez M, Mastenbroek S, Janelidze S, Tideman P, Mattsson‐Carlgren N, Stomrud E, Hansson O, Palmqvist S, Ossenkoppele R.   +8 more
europepmc   +2 more sources

Prox1-Heterozygosis Sensitizes the Pancreas to Oncogenic Kras-Induced Neoplastic Transformation

Neoplasia: An International Journal for Oncology Research, 2016
The current paradigm of pancreatic neoplastic transformation proposes an initial step whereby acinar cells convert into acinar-to-ductal metaplasias, followed by progression of these lesions into neoplasias under sustained oncogenic activity and ...
Yiannis Drosos, Geoffrey Neale, Jianming Ye, Leena Paul, Emin Kuliyev, Anirban Maitra, Anna L Means, M Kay Washington, Jerold Rehg, David B Finkelstein, Beatriz Sosa-Pineda   +10 more
doaj   +3 more sources