Results 71 to 80 of about 640,277 (286)

Clinical phenotype, gene mutation and application of targeted next generation sequencing in patients with early-onset epileptic encephalopathy

Chinese Journal of Contemporary Neurology and Neurosurgery, 2018
Objective To study the clinical features and gene mutations of early-onset epileptic encephalopathy (EOEE) and to explore the application in pathogenic diagnosis of EOEE by next generation sequencing. Methods The clinical data of 68 cases diagnosed with
Xiao-jun LIU, Pei-yuan ZHANG, Mei-fang LEI, Xin-ping WEI, Xiao-li YU, Dong LI, Jian-bo SHU, Chun-quan CAI, Yu-qin ZHANG   +8 more
doaj   +1 more source

The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46,XY males without adrenal insufficiency [PDF]

, 2009
OBJECTIVE. Hypospadias is a frequent congenital anomaly but in most cases an underlying cause is not found. Steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) is a key regulator of human sex development and an increasing number of SF-1 (NR5A1) mutations are ...
Mazen, I., Achermann, J.C., Rossi, R., Akkurt, I., Köhler, B., Cetindag, C., Biebermann, H., Grüters, A., Lin, L., Hiort, O.   +9 more
core  

Unraveling 4‐Phenylbutyrate's Therapeutic Role in SLC6A1 Disorders: Pharmacochaperoning Over HDAC Inhibition

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw, Karishma Randhave, Ekta Anand, Ziang (Debbie) Song, Wangzhen Shen, Jing‐Qiong Kang   +5 more
wiley   +1 more source

Severe myoclonic epilepsy of infancy (Dravet syndrome): Clinical and genetic features of nine Turkish patients

Annals of Indian Academy of Neurology, 2011
Purpose: Mutations of the a-1 subunit sodium channel gene (SCN1A) cause severe myoclonic epilepsy of infancy (SMEI). To date, over 300 mutations related to SMEI have been described.
Meral Özmen, Cengiz Dilber, Burak Tatli, Nur Aydinli, Mine Çaliskan, Baris Ekici   +5 more
doaj   +1 more source

Diagnosis of nonsense mutations in Aspergillus nidulans

Bioscience Reports, 1983
Three genotypically suppressible alleles,alX4, alcA125, and niaD500, are phenotypically suppressed by aminoglycoside antibiotics. Unsuppressible alleles at these loci are unaffected as are known missense mutations at the yA and gdhA loci. This is consistent with the premise that the suppressible mutations are nonsense and that this highly-allele ...
S D, Martinelli, T J, Roberts
openaire   +2 more sources

A Nonsense Mutation in MSX1 Causes Witkop Syndrome [PDF]

The American Journal of Human Genetics, 2001
Witkop syndrome, also known as tooth and nail syndrome (TNS), is a rare autosomal dominant disorder. Affected individuals have nail dysplasia and several congenitally missing teeth. To identify the gene responsible for TNS, we used candidate-gene linkage analysis in a three-generation family affected by the disorder.
Jumlongras, Dolrudee, Bei, Marianna, Stimson, Jean M., Wang, Wen-Fang, DePalma, Steven R., Seidman, Christine E., Felbor, Ute, Maas, Richard, Seidman, Jonathan G., Olsen, Bjorn R.   +9 more
openaire   +2 more sources

Validation of a Cellular Imaging‐Based Method as a Potential Biomarker for SPG4 Hereditary Spastic Paraplegia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Hereditary Spastic Paraplegia (HSP) comprises a group of rare genetic diseases characterized by length‐dependent axonal degeneration of the corticospinal tracts and dorsal columns, whose main clinical feature is spastic gait. Pathogenic variants in the SPG4 gene cause Spastic Paraplegia Type 4 (SPG4‐HSP), the most common form of HSP.
Gaia Fattorini, Valerio Licursi, Gianmarco Dalla Zanna, Flavio Dal Canto, Melissa Barghigiani, Nunzio Setola, Salvatore Rossi, Antonio Funcis, Filippo M. Santorelli, Gabriella Silvestri, Carlo Casali, Francesca Sardina, Cinzia Rinaldo   +12 more
wiley   +1 more source

A novel nonsense mutation in cathepsin C gene in an Egyptian patient presenting with Papillon–Lefèvre syndrome

Egyptian Journal of Medical Human Genetics, 2015
Background Cathepsin C gene (CTSC) (MIM#602365) is a lysosomal cysteine proteinase coding gene which encodes for CTSC protein that plays a major role in the activation of granule serine proteases, particularly leukocyte elastase and granzymes A and B ...
Hala Soliman, Heba Gamal Eldeen, Mustafa Ibrahim Mustafa   +2 more
doaj   +1 more source

Nonsense suppression induced readthrough of a novel PAX6 mutation in patient‐derived cells of congenital aniridia

Molecular Genetics & Genomic Medicine, 2020
Background Congenital aniridia is a severe ocular abnormality characterized by incomplete formation of the iris and many other ocular complications. Most cases are caused by the paired box 6 (PAX6) gene mutations generating premature termination codons ...
Xiaoliang Liu, Yuanyuan Zhang, Bijun Zhang, Haiming Gao, Chuang Qiu   +4 more
doaj   +1 more source

Variegate Porphyria: Identification of a Nonsense Mutation in the Protoporphyrinogen Oxidase Gene [PDF]

, 1998
The porphyrias are disorders of porphyrin metabolism that result from inherited or acquired aberrations in the control of the heme biosynthetic pathway.
Christiano, Angela M., Jugert, Frank K., Kalka, Katrin, Frank, Jorge, Goerz, Günter, Merk, Hans F.   +5 more
core   +1 more source