Cargando…

KIAA1109 gene mutation in surviving patients with Alkuraya-Kučinskas syndrome: a review of literature

BACKGROUND: Alkuraya-Kučinskas syndrome is an autosomal recessive disorder characterized by brain abnormalities associated with cerebral parenchymal underdevelopment, arthrogryposis, club foot and global developmental delay. KIAA1109, a functionally uncharacterized gene is identified as the molecula...

Descripción completa

Detalles Bibliográficos
Autores principales:	Kumar, Kishore, Bellad, Anikha, Prasad, Pramada, Girimaji, Satish Chandra, Muthusamy, Babylakshmi
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2020
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7318400/ https://www.ncbi.nlm.nih.gov/pubmed/32590954 http://dx.doi.org/10.1186/s12881-020-01074-2

Ejemplares similares

A Novel LINS1 Truncating Mutation in Autosomal Recessive Nonsyndromic Intellectual Disability
por: Muthusamy, Babylakshmi, et al.
Publicado: (2020)

Shukla-Vernon Syndrome: A Second Family with a Novel Variant in the BCORL1 Gene
por: Muthusamy, Babylakshmi, et al.
Publicado: (2021)

Compound Heterozygous Variants in a Surviving Patient With Alkuraya-Kučinskas Syndrome: A New Case Report and a Review of the Literature
por: Yue, Ling, et al.
Publicado: (2022)

Endosomal trafficking defects in patient cells with KIAA1109 biallelic variants
por: Kane, Megan S., et al.
Publicado: (2019)

KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis
por: Gueneau, Lucie, et al.
Publicado: (2018)

Mutations in KIAA1109, CACNA1C, BSN, AKAP13, CELSR2, and HELZ2 Are Associated With the Prognosis in Endometrial Cancer
por: Qiao, Zhiwei, et al.
Publicado: (2019)

Testing for the association of the KIAA1109/Tenr/IL2/IL21 gene region with rheumatoid arthritis in a European family-based study
por: Teixeira, Vitor Hugo, et al.
Publicado: (2009)

1109. Valgancyclovir Dosing for Cytomegalovirus Prophylaxis in Heart Transplant Recipients
por: Huang, Glen, et al.
Publicado: (2020)

Systematic mutation analysis of KIAA0767 and KIAA1646 in chromosome 22q-linked periodic catatonia
por: Stöber, Gerald, et al.
Publicado: (2005)

Intellectual disability in India: the evolving patterns of care
por: Girimaji, Satish Chandra
Publicado: (2011)

1109 Knowledge and Attitudes of Pregnant Women Towards Recommendations for Immunization During Pregnancy
por: Healy, C. Mary, et al.
Publicado: (2014)

Only one independent genetic association with rheumatoid arthritis within the KIAA1109-TENR-IL2-IL21 locus in Caucasian sample sets: confirmation of association of rs6822844 with rheumatoid arthritis at a genome-wide level of significance
por: Hollis-Moffatt, Jade E, et al.
Publicado: (2010)

Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies
por: Hammarsjö, A., et al.
Publicado: (2017)

1109P The psychological impact of COVID-19 pandemic on patients with NETs: Between resilience and vulnerability
por: Lauricella, E., et al.
Publicado: (2021)

1109. Pharmacokinetics and Exposure of Cefepime in Critically Ill Patients Receiving Extracorporeal Membrane Oxygenation (ECMO)
por: Kois, Abigail K, et al.
Publicado: (2021)

Whole Exome Sequencing Reveals Novel Variants in Unexplained Erythrocytosis
por: Khurana, Harshit, et al.
Publicado: (2023)

Substantive Morphological Descriptions, Phylogenetic Analysis and Single Nucleotide Polymorphisms of Aspergillus Species From Foeniculum vulgare
por: Mahata, Pranab Kumar, et al.
Publicado: (2022)

Correction to: Aspinall S, et al. Human Vaccines and Immunotherapeutics Volume 8, Issue 8; pp.1109–18
por: Aspinall, Sanet, et al.
Publicado: (2013)

Sex and degree of severity influence the prognostic impact of anemia in primary myelofibrosis: analysis based on 1109 consecutive patients
por: Nicolosi, Maura, et al.
Publicado: (2018)

SG-APSIC1109: Redesign of outpatient clinic clean care to decrease postoperative SSIs after orthopedic implants
por: Dahesihdewi, Andaru, et al.
Publicado: (2023)

P1109: EPIDEMIOLOGY OF CUTANEOUS T-CELL LYMPHOMAS: DATA ANALYSIS FROM THE MARCHE MULTIDISCIPLINARY TEAM (MDT) REGISTER.
por: Morsia, Erika, et al.
Publicado: (2023)

Prognostic impact of tumor mutation burden and the mutation in KIAA1211 in small cell lung cancer
por: Zhou, Mengting, et al.
Publicado: (2019)

Association of a Novel Nonsense Mutation in KIAA1279 with Goldberg-Shprintzen Syndrome
por: SALEHPOUR, Shadab, et al.
Publicado: (2017)

Adolescent-onset X-linked Adrenoleukodystrophy Presenting as Treatment-resistant Bipolar Disorder
por: Ray, Anirban, et al.
Publicado: (2017)

Induction of KIAA1199/CEMIP is associated with colon cancer phenotype and poor patient survival
por: Fink, Stephen P., et al.
Publicado: (2015)

NF-κB-induced KIAA1199 promotes survival through EGFR signalling
por: Shostak, Kateryna, et al.
Publicado: (2014)

1109. Factors Impacting the Decision to Order Stool Diagnostic Testing in Patients With Acute Gastroenteritis Among Primary Care Providers
por: O’Leary, Sean, et al.
Publicado: (2018)

KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome
por: Sanders, Anna A. W. M., et al.
Publicado: (2015)

De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy
por: de Lange, Iris M, et al.
Publicado: (2016)

Assessing the Risk That Phytophthora melonis Can Develop a Point Mutation (V1109L) in CesA3 Conferring Resistance to Carboxylic Acid Amide Fungicides
por: Chen, Lei, et al.
Publicado: (2012)

Preparation of monoclonal antibody against human KIAA0100 protein and Northern blot analysis of human KIAA0100 gene
por: Cui, He, et al.
Publicado: (2017)

1109. Use of Prospective Audit with Intervention and Feedback (PAIF) for Urine Culture (UCx) Interpretation at a Veteran Affairs Medical Center
por: Nowalk, Nathan, et al.
Publicado: (2019)

Sanger sequencing is no longer always necessary based on a single-center validation of 1109 NGS variants in 825 clinical exomes
por: Arteche-López, A., et al.
Publicado: (2021)

E2F1 and KIAA0191 expression predicts breast cancer patient survival
por: Hallett, Robin M, et al.
Publicado: (2011)

KMT2B-Related Dystonia in Indian Patients With Literature Review and Emphasis on Asian Cohort
por: Dhar, Debjyoti, et al.
Publicado: (2023)

Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome
por: Roosing, Susanne, et al.
Publicado: (2015)

Successful Treatment of a Case of Scalding
por: Dey, Pramada Kumar
Publicado: (1921)

FAMILY INTERVIEW FOR STRESS AND COPING IN MENTAL RETARDATION (FISC-MR) : A TOOL TO STUDY STRESS AND COPING IN FAMILIES OF CHILDREN WITH MENTAL RETARDATION
por: Girimaji, Satish Chandra, et al.
Publicado: (1999)

Course and outcome of comorbid mood disorders in children and adolescents with intellectual disability [IDD]
por: Velusamy, Arul Jayendra Pradeep, et al.
Publicado: (2021)

Lived experiences of children and adolescents with obsessive–compulsive disorder: interpretative phenomenological analysis
por: Sravanti, Lakshmi, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_eun0bqhpi8toq2m7usjgma8nb3