Cargando…

Inherited 2q23.1 microdeletions involving the MBD5 locus

BACKGROUND: Microdeletions of 2q23.1 disrupting MBD5 and loss of function mutations of MBD5 cause MBD5‐Associated Neurodevelopmental disorders (MAND). Nearly all reported patients have been isolated cases of de novo origin. METHODS: This study investigates three families with inherited MBD5 mutation...

Descripción completa

Detalles Bibliográficos
Autores principales:	Tadros, Shereen, Wang, Rubin, Waters, Jonathan J., Waterman, Christine, Collins, Amanda L., Collinson, Morag N., Ahn, Joo W., Josifova, Dragana, Chetan, Ravi, Kumar, Ajith
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2017
Materias:	Clinical Reports
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5606852/ https://www.ncbi.nlm.nih.gov/pubmed/28944244 http://dx.doi.org/10.1002/mgg3.316

Ejemplares similares

Trapping MBD5 to understand 2q23.1 microdeletion syndrome
por: Kwon, Deborah Y, et al.
Publicado: (2014)

Disruption of Mbd5 in mice causes neuronal functional deficits and neurobehavioral abnormalities consistent with 2q23.1 microdeletion syndrome
por: Camarena, Vladimir, et al.
Publicado: (2014)

8p23.1 Microdeletion syndrome and obstructing myxomatous heart valve nodules
por: Oh, Kei Shing, et al.
Publicado: (2020)

Microdeletion on chromosome 8p23.1 in a familial form of severe Buruli ulcer
por: Vincent, Quentin B., et al.
Publicado: (2018)

The methyl binding domain containing protein MBD5 is a transcriptional regulator responsible for 2q23.1 deletion syndrome
por: Walz, Katherina, et al.
Publicado: (2014)

A Rare Case Report of 17q23.1q23.2 Microdeletion With Homozygosity of 11p11.2q13.4 in a Newborn
por: Barola, Sindhu, et al.
Publicado: (2022)

Variable phenotype expression in a family segregating microdeletions of the NRXN1 and MBD5 autism spectrum disorder susceptibility genes
por: Woodbury-Smith, Marc, et al.
Publicado: (2017)

MBD2 and MBD3: elusive functions and mechanisms
por: Menafra, Roberta, et al.
Publicado: (2014)

De novo 2.3 Mb microdeletion of 1q32.2 involving the Van der Woude Syndrome locus
por: Tan, Ene-Choo, et al.
Publicado: (2013)

A genomic copy number variant analysis implicates the MBD5 and HNRNPU genes in Chinese children with infantile spasms and expands the clinical spectrum of 2q23.1 deletion
por: Du, Xiaonan, et al.
Publicado: (2014)

Familial inheritance of the 3q29 microdeletion syndrome: case report and review
por: Khan, Wahab A., et al.
Publicado: (2019)

Impact of cinacalcet introduction on MBD management: the MBD-5D study in Japan
por: Fukuma, Shingo, et al.
Publicado: (2013)

Prenatal diagnosis and molecular cytogenetic characterization of an inherited microdeletion of chromosome 16p11.2
por: Li, Meihua, et al.
Publicado: (2022)

Prevention and Treatment of CKD-MBD
por: Cozzolino, Mario
Publicado: (2013)

A microdeletion del(12)(p11.21p11.23) with a cryptic unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome
por: Ben-Mahmoud, Afif, et al.
Publicado: (2023)

A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome
por: Ben-Mahmoud, Afif, et al.
Publicado: (2023)

The Human Proteins MBD5 and MBD6 Associate with Heterochromatin but They Do Not Bind Methylated DNA
por: Laget, Sophie, et al.
Publicado: (2010)

DNA methylation directs genomic localization of Mbd2 and Mbd3 in embryonic stem cells
por: Hainer, Sarah J, et al.
Publicado: (2016)

A Maternally Inherited Rare Case with Chromoanagenesis-Related Complex Chromosomal Rearrangements and De Novo Microdeletions
por: Yen, Jui-Hung, et al.
Publicado: (2022)

Recruitment of MBD1 to target genes requires sequence-specific interaction of the MBD domain with methylated DNA
por: Clouaire, Thomas, et al.
Publicado: (2010)

MBD5 and MBD6 stabilize the BAP1 complex and promote BAP1-dependent cancer
por: Tsuboyama, Natsumi, et al.
Publicado: (2022)

Genome-Wide Association Study Identifies a Novel Susceptibility Locus at 12q23.1 for Lung Squamous Cell Carcinoma in Han Chinese
por: Dong, Jing, et al.
Publicado: (2013)

Microdeletion syndromes
por: Datar, Chaitanya
Publicado: (2014)

Clinical Features in Patients with Xq23 Microdeletion: A Case Report and Literature Review
por: Qin, Lu, et al.
Publicado: (2022)

CKD-MBD after kidney transplantation
por: Wesseling-Perry, Katherine, et al.
Publicado: (2011)

A Japanese approach for CKD-MBD
por: Yokoyama, Keitaro, et al.
Publicado: (2013)

The Role of Vitamin K in CKD-MBD
por: Fusaro, Maria, et al.
Publicado: (2022)

CKD-MBD diagnosis: biochemical abnormalities
por: Lucca, Leandro Junior, et al.
Publicado: (2021)

An Inherited Small Microdeletion at 15q13.3 in a Patient with Early- Onset Obsessive-Compulsive Disorder
por: Cappi, Carolina, et al.
Publicado: (2014)

Prenatal diagnosis and molecular cytogenetic characterization of an inherited microdeletion of 18q12.3 encompassing SETBP1
por: Zhou, Yaqing, et al.
Publicado: (2022)

Intragenic MBD5 familial deletion variant does not negatively impact MBD5 mRNA expression
por: Mullegama, Sureni V, et al.
Publicado: (2014)

Photon production in proton-proton collisions at 23.1 GeV
por: Fidecaro, Maria, et al.
Publicado: (1962)

Photon production in proton-proton collisions at 23.1 GeV
por: Fidecaro, Maria, et al.
Publicado: (1962)

23.1 UNDERSTANDING THE ROLE OF SCHIZOPHRENIA/AUTISM GENES IN CORTICAL DEVELOPMENT
por: Cooper, Helen, et al.
Publicado: (2018)

Differential roles for MBD2 and MBD3 at methylated CpG islands, active promoters and binding to exon sequences
por: Günther, Katharina, et al.
Publicado: (2013)

Prenatal diagnosis of 7q11.23 microdeletion: Two cases report and literature review
por: Lv, Xin, et al.
Publicado: (2023)

Single-nucleus RNA-seq reveals that MBD5, MBD6, and SILENZIO maintain silencing in the vegetative cell of developing pollen
por: Ichino, Lucia, et al.
Publicado: (2022)

Relationship between adenovirus DNA replication proteins and nucleolar proteins B23.1 and B23.2
por: Hindley, Clemence E., et al.
Publicado: (2007)

Prenatal diagnosis and genetic counseling of a paternally inherited chromosome 15q11.2 microdeletion in a Chinese family
por: Tang, Wenjuan, et al.
Publicado: (2022)

The locus for an inherited cataract in sheep maps to ovine chromosome 6
por: Wilson, Gareth R.S., et al.
Publicado: (2012)

Cannot write session to /tmp/vufind_sessions/sess_m90u0rmjp720of3ep5iho1pl9t