Results 171 to 180 of about 1,070 (211)

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Expanding the electroclinical spectrum of TANC2‐related disorders: Lennox–Gastaut syndrome and related developmental epileptic phenotypes

Epilepsia Open, EarlyView.
Abstract Objective Neurodevelopmental disorders (NDDs) and epilepsy are often associated. Increasing evidence highlights a pivotal role for pathogenic variants in genes encoding synaptic scaffolding proteins. Within this group, TANC2 has recently been implicated in intellectual developmental disorder with autistic features and language delay, with or ...
Lorenzo Perilli, Carlotta Stipa, Gianmichele Villano, Laura Licchetta, Leo Strothmann, Robin Tobias Jauss, Gerhard Josef Kluger, Raffaella Minardi, NETRE consortium, Giuseppe Gobbi, Salvatore Grosso, Francesca Bisulli, Pasquale Striano   +12 more
wiley   +1 more source

The genetic architecture of epilepsy across molecular mechanisms and clinical heterogeneity

Epilepsia Open, EarlyView.
Abstract Epilepsy comprises a highly heterogeneous group of neurological disorders unified by a persistent predisposition to recurrent seizures, yet driven by remarkably diverse genetic, molecular, and network‐level mechanisms. Advances in genomic technologies have revealed that epilepsy arises from a multilayered genetic architecture encompassing rare
Mohammad Reza Seyedtaghia, Jina Babanzadeh, Marcello Scala, Lorenzo Perilli, Pasquale Striano   +4 more
wiley   +1 more source

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MSH2 splice site mutation and endometrial cancer

International Journal of Gynecological Cancer, 2006
Hereditary nonpolyposis colorectal cancer (HNPCC) is an inherited syndrome of cancer susceptibility caused by germ line mutations of genes participating in mismatch repair (MMR). Carriers of MMR gene mutations have an increased risk of colorectal cancers and cancer of other organs.
F, Bianchi, S, Rosati, L, Belvederesi, C, Loretelli, R, Catalani, A, Mandolesi, R, Bracci, I, Bearzi, E, Porfiri, R, Cellerino   +9 more
openaire   +2 more sources

Identification of an ancient haemophilia A splice site mutation

Thrombosis Research, 2012
To date, numerous mutations resulting in haemophilia A are known and recorded at HAMSTeRS. We identified a new splice site mutation in intron 6 of the F8 gene (T to G transition at position -14; c.788-14T>G) in seven not knowingly related patients, who all suffer from mild haemophilia A. RNA analysis of blood cells indicated that this mutation leads to
Reitter-Pfoertner, Sylvia, von Haeseler, Arndt, Horvath, Birgit, Sunder-Plassmann, Raute, Tiedje, Vera, Pabinger, Ingrid, Mannhalter, Christine   +6 more
openaire   +3 more sources

Novel Splice Site Mutation in MAMLD1 in a Patient with Hypospadias

Sexual Development, 2015
<i>MAMLD1</i> is a causative gene for disorders of sex development. Several <i>MAMLD1</i> mutations have been shown to cause hypospadias by generating dysfunctional proteins and/or unstable mRNAs. Here, we identified an intronic mutation of <i>MAMLD1</i> (g.IVS4−2A>G) in 1 of 180 hypospadias patients.
Maki Igarashi, Yuka Wada, Yoshiyuki Kojima, Mami Miyado, Michiko Nakamura, Koji Muroya, Kentaro Mizuno, Yutaro Hayashi, Katsuya Nonomura, Kenjiro Kohri, Tsutomu Ogata, Maki Fukami   +11 more
openaire   +2 more sources

Sarcoidosis is associated with a truncating splice site mutation in BTNL2

Nature Genetics, 2005
Sarcoidosis is a polygenic immune disorder with predominant manifestation in the lung. Genome-wide linkage analysis previously indicated that the extended major histocompatibility locus on chromosome 6p was linked to susceptibility to sarcoidosis. Here, we carried out a systematic three-stage SNP scan of 16.4 Mb on chromosome 6p21 in as many as 947 ...
Valentonyte, Ruta, Hampe, Jochen, Huse, Klaus, Rosenstiel, Philip, Albrecht, Melanie, Stenzel, A., Nagy, Marion, Gaede, Karoline I., Franke, Andre, Haesler, R., Koch, Andreas, Lengauer, Thomas, Seegert, Dirk, Reiling, N., Ehlers, Stefan, Schwinger, Eberhard, Platzer, M., Krawczak, Michael, Müller-Quernheim, Joachim, Schürmann, Melanie, Schreiber, Stefan   +20 more
openaire   +3 more sources

Clinical polymorphism of splice site mutations in the ABCA4 gene

Vestnik oftal'mologii, 2018
ABCA4 is one of the main genes whose mutations are associated with various inherited retinal diseases (IRD) such as Stargardt disease, cone dystrophy, cone-rod dystrophy, and retinitis pigmentosa. The severity of retinal dystrophy phenotype may be related to the degree of mutation pathogenicity, which depends on the localization in various regulatory ...
N L, Sheremet, I G, Grushke, N V, Zhorzholadze, I A, Ronzina, A A, Mikaelyan, A S, Tanas, V V, Strelnikov   +6 more
openaire   +2 more sources

Splice Site Mutations Effect on the F8 mRNA Splicing

2007
This highlights the usefulness of the mRNA analysis for routine diagnosis of such ambiguous cases including the presence of potential cryptic splice sites and clearly demonstrates the causality of the mutations which is also important for the genetic counseling of those families.
O. El-Maarri, C. Klein, J. Junen, J. Schröder, C. R. Müller, J. Oldenburg   +5 more
openaire   +1 more source

A splice-site mutation causing ovine McArdle's disease

Neuromuscular Disorders, 1997
McArdle's disease is an autosomal recessive myopathy with symptoms of exercise intolerance caused by deficiency of the enzyme muscle glycogen phosphorylase which releases glucose for contraction during exercise. The human cDNA has been sequenced and disease-causing mutations identified.
Tan, P., Allen, J.G., Wilton, S.D., Akkari, P.A., Huxtable, C.R., Laing, N.G.   +5 more
openaire   +2 more sources