Cargando…

Pathogenic EFHC1 mutations are tolerated in healthy individuals dependent on reported ancestry

OBJECTIVE: Screening for specific coding mutations in the EFHC1 gene has been proposed as a means of assessing susceptibility to juvenile myoclonic epilepsy (JME). To clarify the role of these mutations, especially those reported to be highly penetrant, we sought to measure the frequency of exonic E...

Descripción completa

Detalles Bibliográficos
Autores principales:	Subaran, Ryan L, Conte, Juliette M, Stewart, William C L, Greenberg, David A
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BlackWell Publishing Ltd 2015
Materias:	Full-Length Original Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4354299/ https://www.ncbi.nlm.nih.gov/pubmed/25489633 http://dx.doi.org/10.1111/epi.12864

Ejemplares similares

EFHC1 mutation in Indian juvenile myoclonic epilepsy patient
por: Thounaojam, Romita, et al.
Publicado: (2017)

Juvenile myoclonic epilepsy: EFHC1 at the cross–roads?
por: Ganesh, Subramaniam
Publicado: (2010)

Experimental and computational analysis of the ancestry of an evolutionary young enzyme from histidine biosynthesis
por: Kinateder, Thomas, et al.
Publicado: (2023)

Bacterial DNA Detection in the Blood of Healthy Subjects
por: Raeisi, Javad, et al.
Publicado: (2022)

USL255 extended-release topiramate: Dose-proportional pharmacokinetics and tolerability in healthy volunteers
por: Clark, Annie M, et al.
Publicado: (2014)

Association between inflammation, reward processing, and ibuprofen-induced increases of miR-23b in astrocyte-enriched extracellular vesicles: A randomized, placebo-controlled, double-blind, exploratory trial in healthy individuals
por: Burrows, Kaiping, et al.
Publicado: (2022)

Clinical performance of a new intact FGF23 immunoassay in healthy individuals and patients with chronic hypophosphatemia
por: Kato, Hajime, et al.
Publicado: (2023)

Variation in the X-Linked EFHC2 Gene Is Associated with Social Cognitive Abilities in Males
por: Startin, Carla M., et al.
Publicado: (2015)

EFHC1, implicated in juvenile myoclonic epilepsy, functions at the cilium and synapse to modulate dopamine signaling
por: Loucks, Catrina M, et al.
Publicado: (2019)

The inflammatory immune system after wake up in healthy male individuals: A highly standardized and controlled study
por: Petrowski, Katja, et al.
Publicado: (2022)

Physicochemical Position-Dependent Properties in the Protein Secondary Structures
por: Saghapour, Ehsan, et al.
Publicado: (2019)

Novel CFTR Mutations in Two Iranian Families with Severe Cystic Fibrosis
por: Mohseni, Marzieh, et al.
Publicado: (2016)

The Predictive Value of Serum Cytokines for Distinguishing Celiac Disease from Non-Celiac Gluten Sensitivity and Healthy Subjects
por: Masaebi, Fatemeh, et al.
Publicado: (2020)

Methylation Status of H19/IGF2 Differentially Methylated Region in in vitro Human Blastocysts Donated by Healthy Couples
por: Derakhshan-Horeh, Marzieh, et al.
Publicado: (2017)

Repeated Administration of Baclofen Modulates TRPV-1 Channel Expression by PKC Pathway in Dorsal Root Ganglia of Spinal Cord in a Morphine Tolerance Model of Rats
por: Mehrabadi, Shima, et al.
Publicado: (2020)

Novel LAMA2 Gene Mutations Associated with Merosin-Deficient Congenital Muscular Dystrophy
por: Hashemi-Gorji, Feyzollah, et al.
Publicado: (2018)

Multiplex Snapshot Minisequencing for the Detection of Common PAH Gene Mutations in Iranian Patients with Phenylketonuria
por: Namdar Aligoodarzi, Pegah, et al.
Publicado: (2023)

Identification and Evaluation of Novel Drug Targets against the Human Fungal Pathogen Aspergillus fumigatus with Elaboration on the Possible Role of RNA-Binding Protein
por: Malekzadeh, Saeid, et al.
Publicado: (2017)

Production of Non-Ribosomal Peptide Synthetase (NRPS)- Dependent Siderophore by Aeromonas Isolates
por: Amsaveni, Ramasamy, et al.
Publicado: (2016)

Gαq Signaling Activates β-Catenin-Dependent Gene Transcription
por: Ansari, Sara, et al.
Publicado: (2023)

Identification of Two Novel Mutations in KDM3A Regulatory Gene in Iranian Infertile Males
por: Hojati, Zohreh, et al.
Publicado: (2019)

EF-hand domain containing 2 (Efhc2) is crucial for distal segmentation of pronephros in zebrafish
por: Barrodia, Praveen, et al.
Publicado: (2018)

Innate immunity impacts social-cognitive functioning in people with multiple sclerosis and healthy individuals: Implications for IL-1ra and urinary immune markers
por: Turner, Jason A., et al.
Publicado: (2021)

Exhaustive mutational analysis of severe acute respiratory syndrome coronavirus 2 ORF3a: An essential component in the pathogen's infectivity cycle
por: Benazraf, Amit, et al.
Publicado: (2023)

Homozygosity Mapping and Targeted Sanger Sequencing Identifies Three Novel CRB1 (Crumbs homologue 1) Mutations in Iranian Retinal Degeneration Families
por: Ghofrani, Mohammad, et al.
Publicado: (2017)

Tolerance in Internet gaming disorder: A need for increasing gaming time or something else?
por: King, Daniel L., et al.
Publicado: (2017)

A Survey of the Common Mutations and IVS8-Tn Polymorphism of Cystic Fibrosis Transmembrane Conductance Regulator Gene in Infertile Men with Nonobstructive Azoospermia and CBAVD in Iranian Population
por: Asadi, Fatemeh, et al.
Publicado: (2019)

A heterozygous N-terminal truncation mutation of NFKBIA results in an impaired NF-κB dependent inflammatory response
por: Wen, Wen, et al.
Publicado: (2021)

Compendium of proteins containing segments that exhibit zero‐tolerance to amino acid variation in humans
por: Sanders, Adam L., et al.
Publicado: (2022)

The Staphylococcus aureus toxin–antitoxin system YefM–YoeB is associated with antibiotic tolerance and extracellular dependent biofilm formation
por: Qi, Xinyu, et al.
Publicado: (2021)

Contribution of Streptokinase-Domains from Groups G and A (SK2a) Streptococci in Amidolytic/Proteolytic Activities and Fibrin-Dependent Plasminogen Activation: A Domain-Exchange Study
por: Rafipour, Maryam, et al.
Publicado: (2020)

Self-reported cognitive impairment in individuals with Primary Immunodeficiency Disease
por: Sowers, Kerri L., et al.
Publicado: (2020)

Safety and tolerability of collagenase Clostridium histolyticum and fasciectomy for Dupuytren’s contracture
por: Peimer, C. A., et al.
Publicado: (2015)

Habitual physical activity is associated with the maintenance of neutrophil migratory dynamics in healthy older adults
por: Bartlett, David B., et al.
Publicado: (2016)

Development and usage of a health recommendation web tool (HeaRT) designed to inform women of personalized preventive health recommendations
por: Greenberg, Keren L., et al.
Publicado: (2022)

Whole body vibration elicits differential immune and metabolic responses in obese and normal weight individuals
por: Blanks, Anson M., et al.
Publicado: (2019)

Epilepsy protein Efhc1/myoclonin1 is expressed in cells with motile cilia but not in neurons or mitotic apparatuses in brain
por: Suzuki, Toshimitsu, et al.
Publicado: (2020)

Neighborhood socioeconomic deprivation and individual-level socioeconomic status are associated with dopamine-mediated changes to monocyte subset CCR2 expression via a cAMP-dependent pathway
por: Baumer, Yvonne, et al.
Publicado: (2023)

The role of distinct co-mutation patterns with TP53 mutation in immunotherapy for NSCLC
por: Wang, Shuhang, et al.
Publicado: (2020)

Improving patient understanding of prenatal screening tests: Using naturally sampled frequencies, pictures, and accounting for individual differences
por: West, Lauren M., et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_423e2dnsifqijq1b2qfg5oeiqo