EIEE1 ARX

Polyalanine expansion of ARX associated with cryptogenic West syndrome.

M,Kato, S,Das, K,Petras, Y,Sawaishi, W B,Dobyns

Neurology · 2003-07-22

ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia.

Mireille,Cossée, Laurence,Faivre, Christophe,Philippe, Heifa,Hichri, Anne,de Saint-Martin, Vincent,Laugel, Nadia,Bahi-Buisson, Jean-François,Lemaitre, Bruno,Leheup, Bruno,Delobel, Bénédicte,Demeer, Karine,Poirier, Valérie,Biancalana, Jean-Michel,Pinoit, Sophie,Julia, Jamel,Chelly, Didier,Devys, Jean-Louis,Mandel

American journal of medical genetics. Part A · 2011-01-01

The X-linked infantile spasms syndrome (MIM 308350) maps to Xp11.4-Xpter in two pedigrees.

S,Claes, K,Devriendt, L,Lagae, B,Ceulemans, L,Dom, P,Casaer, P,Raeymaekers, J J,Cassiman, J P,Fryns

Annals of neurology · 1997-09-01

A triplet repeat expansion genetic mouse model of infantile spasms syndrome, Arx(GCG)10+7, with interneuronopathy, spasms in infancy, persistent seizures, and adult cognitive and behavioral impairment.

Maureen G,Price, Jong W,Yoo, Daniel L,Burgess, Fang,Deng, Richard A,Hrachovy, James D,Frost, Jeffrey L,Noebels

The Journal of neuroscience : the official journal of the Society for Neuroscience · 2009-07-08

Resources for Genetics Professionals — Genetic Disorders Caused by Nucleotide Repeat Expansions and Contractions

Stephanie E.,Wallace, Lora JH,Bean

GeneReviews® [Internet] · 2022-10-20

Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach.

Isabel,Marques, Maria João,Sá, Gabriela,Soares, Maria do Céu,Mota, Carla,Pinheiro, Lisa,Aguiar, Marta,Amado, Christina,Soares, Angelina,Calado, Patrícia,Dias, Ana Berta,Sousa, Ana Maria,Fortuna, Rosário,Santos, Katherine B,Howell, Monique M,Ryan, Richard J,Leventer, Rani,Sachdev, Rachael,Catford, Kathryn,Friend, Tessa R,Mattiske, Cheryl,Shoubridge, Paula,Jorge

Molecular genetics & genomic medicine · 2015-02-25

ARX spectrum disorders: making inroads into the molecular pathology.

Cheryl,Shoubridge, Tod,Fullston, Jozef,Gécz

Human mutation · 2010-08-01

Clinical and neuroimaging review of triplet repeat diseases.

Ryo,Kurokawa, Mariko,Kurokawa, Akihiko,Mitsutake, Moto,Nakaya, Akira,Baba, Yasuhiro,Nakata, Toshio,Moritani, Osamu,Abe

Japanese journal of radiology · 2022-09-28

Sequence composition changes in short tandem repeats: heterogeneity, detection, mechanisms and clinical implications.

Indhu-Shree,Rajan-Babu, Egor,Dolzhenko, Michael A,Eberle, Jan M,Friedman

Nature reviews. Genetics · 2024-03-11

POLYALANINE TRACT DISORDERS AND NEUROCOGNITIVE PHENOTYPES

Cheryl,Shoubridge, Jozef,Gecz

Madame Curie Bioscience Database [Internet] · 2013-01-01

Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy.

Petter,Strømme, Marie E,Mangelsdorf, Marie A,Shaw, Karen M,Lower, Suzanne M E,Lewis, Helene,Bruyere, Viggo,Lütcherath, Agi K,Gedeon, Robyn H,Wallace, Ingrid E,Scheffer, Gillian,Turner, Michael,Partington, Suzanna G M,Frints, Jean-Pierre,Fryns, Grant R,Sutherland, John C,Mulley, Jozef,Gécz

Nature genetics · 2002-03-11

Exploring unsolved cases of lissencephaly spectrum: integrating exome and genome sequencing for higher diagnostic yield.

Shogo,Furukawa, Mitsuhiro,Kato, Akihiko,Ishiyama, Tomohiro,Kumada, Takeshi,Yoshida, Eri,Takeshita, Pin Fee,Chong, Hideo,Yamanouchi, Yuko,Kotake, Takayoshi,Kyoda, Toshihiro,Nomura, Yohane,Miyata, Mitsuko,Nakashima, Hirotomo,Saitsu

Journal of human genetics · 2024-08-09

Clinical and genetic study of developmental and epileptic encephalopathy in Argentinean pediatric patients.

Matías,Juanes, Mariana,Loos, Gabriela,Reyes, Gabriel,Veneruzzo, Francisco Martín,García, Giovanna,Aschettino, Silvana,Calligaris, María Eugenia,Martín, María Eugenia,Foncuberta, Cristina N,Alonso, Roberto H,Caraballo

Medicina · 2022-01-01

Different types of disease-causing noncoding variants revealed by genomic and gene expression analyses in families with X-linked intellectual disability.

Michael J,Field, Raman,Kumar, Anna,Hackett, Sayaka,Kayumi, Cheryl A,Shoubridge, Lisa J,Ewans, Atma M,Ivancevic, Tracy,Dudding-Byth, Renée,Carroll, Thessa,Kroes, Alison E,Gardner, Patricia,Sullivan, Thuong T,Ha, Charles E,Schwartz, Mark J,Cowley, Marcel E,Dinger, Elizabeth E,Palmer, Louise,Christie, Marie,Shaw, Tony,Roscioli, Jozef,Gecz, Mark A,Corbett

Human mutation · 2021-05-03

Meagan S,Siehr, Cory A,Massey, Jeffrey L,Noebels

Disease models & mechanisms · 2020-03-30

ARX polyalanine expansion mutations lead to migration impediment in the rostral cortex coupled with a developmental deficit of calbindin-positive cortical GABAergic interneurons.

K,Lee, K,Ireland, M,Bleeze, C,Shoubridge

Neuroscience · 2017-06-13

Extensive phenotyping of two ARX polyalanine expansion mutation mouse models that span clinical spectrum of intellectual disability and epilepsy.

Matilda R,Jackson, Kristie,Lee, Tessa,Mattiske, Emily J,Jaehne, Ezgi,Ozturk, Bernhard T,Baune, Terence J,O'Brien, Nigel,Jones, Cheryl,Shoubridge

Neurobiology of disease · 2017-06-08

Embryonic forebrain transcriptome of mice with polyalanine expansion mutations in the ARX homeobox gene.

Tessa,Mattiske, Kristie,Lee, Jozef,Gecz, Gaelle,Friocourt, Cheryl,Shoubridge

Human molecular genetics · 2016-12-15

Polyalanine expansions drive a shift into α-helical clusters without amyloid-fibril formation.

Saskia,Polling, Angelique R,Ormsby, Rebecca J,Wood, Kristie,Lee, Cheryl,Shoubridge, James N,Hughes, Paul Q,Thomas, Michael D W,Griffin, Andrew F,Hill, Quill,Bowden, Till,Böcking, Danny M,Hatters

Nature structural & molecular biology · 2015-11-16

Dysgenesis of enteroendocrine cells in Aristaless-Related Homeobox polyalanine expansion mutations.

Natalie A,Terry, Randall A,Lee, Erik R,Walp, Klaus H,Kaestner, Catherine,Lee May

Journal of pediatric gastroenterology and nutrition · 2015-02-01