Cargando…

Headbobber: A Combined Morphogenetic and Cochleosaccular Mouse Model to Study 10qter Deletions in Human Deafness

The recessive mouse mutant headbobber (hb) displays the characteristic behavioural traits associated with vestibular defects including headbobbing, circling and deafness. This mutation was caused by the insertion of a transgene into distal chromosome 7 affecting expression of native genes. We show t...

Descripción completa

Detalles Bibliográficos
Autores principales:	Buniello, Annalisa, Hardisty-Hughes, Rachel E., Pass, Johanna C., Bober, Eva, Smith, Richard J., Steel, Karen P.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2013
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3572983/ https://www.ncbi.nlm.nih.gov/pubmed/23457544 http://dx.doi.org/10.1371/journal.pone.0056274

Ejemplares similares

The acoustically evoked short latency negative response (ASNR) in a unilaterally deaf cat with histologically-confirmed cochleosaccular degeneration
por: Bianchi, Ezio, et al.
Publicado: (2020)

Subtelomeric study of 132 patients with mental retardation reveals 9 chromosomal anomalies and contributes to the delineation of submicroscopic deletions of 1pter, 2qter, 4pter, 5qter and 9qter
por: Sogaard, Marie, et al.
Publicado: (2005)

Characterization of an unbalanced translocation causing 3q28qter duplication and 10q26.2qter deletion in a patient with global developmental delay and self-injury
por: Osei-Owusu, Ikeoluwa A., et al.
Publicado: (2020)

The Facioscapulohumeral muscular dystrophy region on 4qter and the homologous locus on 10qter evolved independently under different evolutionary pressure
por: Rossi, Monica, et al.
Publicado: (2007)

Prenatal diagnosis of two de novo 4q35-qter deletions characterized by array-CGH
por: Manolakos, Emmanouil, et al.
Publicado: (2013)

Chromosomal imbalance letter: Phenotypic consequences of combined deletion 8pter and duplication 15qter
por: Sheth, Frenny, et al.
Publicado: (2013)

A first case of primary amenorrhea with i(X)(qter---q10::---qter), rob(13;14)(q10;q10), inv(9)(p13q33) karyotype
por: Korgaonkar, Seema, et al.
Publicado: (2011)

Prenatal diagnosis of trisomy 6q25.3-qter and monosomy 10q26.12-qter by array CGH in a fetus with an apparently normal karyotype
por: Marinescu, Ponnila S, et al.
Publicado: (2015)

Chromosome 13q deletion syndrome involving 13q31-qter: A case report
por: Wang, Yue-Ping, et al.
Publicado: (2017)

Developmental Coordination Disorder in a Patient with Mental Disability and a Mild Phenotype Carrying Terminal 6q26-qter Deletion
por: De Cinque, Marianna, et al.
Publicado: (2017)

A rare unbalanced translocation (trisomy 5q33.3‐qter, monosomy 13q34‐qter) results in growth hormone deficiency and brain anomalies
por: Joynt, Alyssa C. M., et al.
Publicado: (2021)

S1PR2 variants associated with auditory function in humans and endocochlear potential decline in mouse
por: Ingham, Neil J., et al.
Publicado: (2016)

Myelodysplastic syndrome in an infant with constitutional pure duplication 1q41-qter
por: Morokawa, Hirokazu, et al.
Publicado: (2018)

A 54 Mb 11qter duplication and 0.9 Mb 1q44 deletion in a child with laryngomalacia and agenesis of corpus callosum
por: Lall, Meena, et al.
Publicado: (2011)

Partial trisomy 2q(2q37.3-->qter) and monosomy 7q(7q34--->qter) due to paternal reciprocal translocation 2;7: a case report.
por: Ahn, Jun Mo, et al.
Publicado: (2003)

Identification and characterisation of spontaneous mutations causing deafness from a targeted knockout programme
por: Lewis, Morag A., et al.
Publicado: (2022)

19q13.33→qter trisomy in a girl with intellectual impairment and seizures
por: Carvalheira, Gianna, et al.
Publicado: (2014)

Expression and Replication Studies to Identify New Candidate Genes Involved in Normal Hearing Function
por: Girotto, Giorgia, et al.
Publicado: (2014)

18q22.1-qter deletion and 4p16.3 microduplication in a boy with speech delay and mental retardation: case report and review of the literature
por: Wang, Chunjing, et al.
Publicado: (2018)

Distal trisomy 10q syndrome, report of a patient with duplicated q24.31 – qter, autism spectrum disorder and unusual features
por: Al-Sarraj, Yasser, et al.
Publicado: (2014)

Partial trisomy 13q22-qter associated to leukoencephalopathy and late onset generalised epilepsy
por: Ribacoba, Renee, et al.
Publicado: (2008)

An autosomal dominant cataract locus mapped to 19q13-qter in a Chinese family
por: Zhao, Rui, et al.
Publicado: (2011)

14q32.3-qter trisomic segment: a case report and literature review
por: Villa, Nicoletta, et al.
Publicado: (2016)

Report of trisomy 2q34-qter and monosomy 4q35.2-qter in a child with mild dysmorphic syndrome and karyotype 46,XY,der(4)t(2;4)(q34;q35.2)pat
por: Meza-Espinoza, Juan Pablo, et al.
Publicado: (2020)

Gain of Chromosome 4qter and Loss of 5pter: An Unusual Case with Features of Cri du Chat Syndrome
por: Sheth, Frenny, et al.
Publicado: (2012)

A case report of chromosome 17q22‐qter trisomy with distinct clinical presentation and review of the literature
por: Upadia, Jariya, et al.
Publicado: (2018)

Functional analysis of candidate genes from genome-wide association studies of hearing
por: Ingham, Neil J., et al.
Publicado: (2020)

The deaf mouse mutant whirler suggests a role for whirlin in actin filament dynamics and stereocilia development
por: Mogensen, Mette M, et al.
Publicado: (2007)

Microcephaly, sensorineural deafness and Currarino triad with duplication–deletion of distal 7q
por: Pavone, Piero, et al.
Publicado: (2009)

Genetics of Deafness
por: Sartorato, Edi Lúcia, et al.
Publicado: (2012)

Complex chromosome rearrangement in a child with microcephaly, dysmorphic facial features and mosaicism for a terminal deletion del(18)(q21.32-qter) investigated by FISH and array-CGH: Case report
por: Manolakos, Emmanouil, et al.
Publicado: (2008)

Congenital hydrocephalus and hemivertebrae associated with de novo partial monosomy 6q (6q25.3→qter)
por: Li, Y, et al.
Publicado: (2015)

A de novo duplication of chromosome 9q34.13-qter in a fetus with Tetralogy of Fallot Syndrome
por: Liu, Jing, et al.
Publicado: (2016)

Deletion of the Sequence Encoding the Tail Domain of the Bone Morphogenetic Protein type 2 Receptor Reveals a Bone Morphogenetic Protein 7-Specific Gain of Function
por: Leyton, Patricio A., et al.
Publicado: (2013)

Chromosome 12q24.31-q24.33 deletion causes multiple dysmorphic features and developmental delay: First mosaic patient and overview of the phenotype related to 12q24qter defects
por: Al-Zahrani, Jawaher, et al.
Publicado: (2011)

Systematic screens of a Candida albicans homozygous deletion library decouple morphogenetic switching and pathogenicity
por: Noble, Suzanne M., et al.
Publicado: (2010)

Early-Onset Diabetes Mellitus in a Patient With a Chromosome 13q34qter Microdeletion Including IRS2
por: Babaya, Naru, et al.
Publicado: (2018)

Duplication of subtelomeric regions in an adult with acute monocytic leukemia with an acquired jumping translocation involving 3q13.31-qter
por: Kjeldsen, Eigil
Publicado: (2017)

Noise stresses the junctions to deaf
por: Avraham, Karen B
Publicado: (2009)

Clinical and molecular evaluations of siblings with “pure” 11q23.3-qter trisomy or reciprocal monosomy due to a familial translocation t (10;11) (q26;q23.3)
por: Chen, Rongyu, et al.
Publicado: (2014)

Cannot write session to /tmp/vufind_sessions/sess_a761gl439gatfa9675p3uiogb3