Cargando…

Characterization of a novel splicing mutation in UNC13D gene through amplicon sequencing: a case report on HLH

BACKGROUND: Hemophagocytic lymphohistiocytosis (HLH) is a rare but fatal disease caused by uncontrolled proliferation of activated lymphocytes and macrophages. Six genes including SH2D1A, PRF1, UNC13D, STX11, STXBP2 and XIAP were reported as causative genes in most cases. CASE PRESENTATION: Here we...

Descripción completa

Detalles Bibliográficos
Autores principales:	Liu, Dongling, Hu, Xijiang, Jiang, Xiwen, Gao, Bo, Wan, Cheng, Chen, Changying
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2017
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5696762/ https://www.ncbi.nlm.nih.gov/pubmed/29157204 http://dx.doi.org/10.1186/s12881-017-0489-1

Ejemplares similares

Identification of a novel nonsense mutation in the UNC13D gene from a patient with hemophagocytic lymphohistiocytosis: a case report
por: Hu, Xijiang, et al.
Publicado: (2018)

Characterization of a novel disease-causing mutation in exon 1 of SH2D1A gene through amplicon sequencing: a case report on HLH
por: Zhou, Shiyuan, et al.
Publicado: (2017)

Late-Onset Non-HLH Presentations of Growth Arrest, Inflammatory Arachnoiditis, and Severe Infectious Mononucleosis, in Siblings with Hypomorphic Defects in UNC13D
por: Gray, Paul Edgar, et al.
Publicado: (2017)

Unc13A and Unc13B contribute to the decoding of distinct sensory information in Drosophila
por: Pooryasin, Atefeh, et al.
Publicado: (2021)

Haploinsufficiency of UNC13D increases the risk of lymphoma
por: Löfstedt, Alexandra, et al.
Publicado: (2019)

TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A
por: Brown, Anna-Leigh, et al.
Publicado: (2022)

Novel Mutations in the UNC13D Gene Carried by a Chinese Neonate with Hemophagocytic Lymphohistiocytosis
por: Chen, Yuanyuan, et al.
Publicado: (2013)

Familial Hemophagocytic Lymphohistiocytosis secondary to UNC13D mutation: a report of two cases
por: Sadeghi, Payman, et al.
Publicado: (2022)

UNC-13L, UNC-13S, and Tomosyn form a protein code for fast and slow neurotransmitter release in Caenorhabditis elegans
por: Hu, Zhitao, et al.
Publicado: (2013)

Variations of the UNC13D Gene in Patients with Autoimmune Lymphoproliferative Syndrome
por: Aricò, Maurizio, et al.
Publicado: (2013)

Ethanol Regulates Presynaptic Activity and Sedation through Presynaptic Unc13 Proteins in Drosophila
por: Xu, Shiyu, et al.
Publicado: (2018)

UNC13B Promote Arsenic Trioxide Resistance in Chronic Lymphoid Leukemia Through Mitochondria Quality Control
por: Wang, Xiao-Bo, et al.
Publicado: (2022)

Two Brothers with Atypical UNC13D-Related Hemophagocytic Lymphohistiocytosis Characterized by Massive Lung and Brain Involvement
por: Giardino, Giuliana, et al.
Publicado: (2017)

The M domain in UNC-13 regulates the probability of neurotransmitter release
por: Liu, Haowen, et al.
Publicado: (2021)

The UNC-6/Netrin receptors UNC-40/DCC and UNC-5 inhibit growth cone filopodial protrusion via UNC-73/Trio, Rac-like GTPases and UNC-33/CRMP
por: Norris, Adam D., et al.
Publicado: (2014)

UNC-129 regulates the balance between UNC-40 dependent and independent UNC-5 signaling pathways
por: MacNeil, Lesley T., et al.
Publicado: (2009)

Roles of the fission yeast UNC-13/Munc13 protein Ync13 in late stages of cytokinesis
por: Zhu, Yi-Hua, et al.
Publicado: (2018)

Amplicon deep sequencing of kelch13 in Plasmodium falciparum isolates from Senegal
por: Gaye, Amy, et al.
Publicado: (2020)

The Distinct Traits of the UNC13A Polymorphism in Amyotrophic Lateral Sclerosis
por: Tan, Harold H. G., et al.
Publicado: (2020)

(M)Unc13s in Active Zone Diversity: A Drosophila Perspective
por: Piao, Chengji, et al.
Publicado: (2022)

UNC13B variants associated with partial epilepsy with favourable outcome
por: Wang, Jie, et al.
Publicado: (2021)

A ligand-insensitive UNC5B splicing isoform regulates angiogenesis by promoting apoptosis
por: Pradella, Davide, et al.
Publicado: (2021)

Mutascope: sensitive detection of somatic mutations from deep amplicon sequencing
por: Yost, Shawn E., et al.
Publicado: (2013)

Corrigendum to: UNC13B variants associated with partial epilepsy with favourable outcome
Publicado: (2021)

Prognostic and Clinical Implications of UNC13C expression in Hepatocellular Carcinoma Patients
por: Kumar, V. Bharath, et al.
Publicado: (2023)

SESAME (SEquence Sorter & AMplicon Explorer): genotyping based on high-throughput multiplex amplicon sequencing
por: Meglécz, Emese, et al.
Publicado: (2011)

Regulation of Gap Junction Dynamics by UNC-44/ankyrin and UNC-33/CRMP through VAB-8 in C. elegans Neurons
por: Meng, Lingfeng, et al.
Publicado: (2016)

Characterization of bHLH/HLH genes that are involved in brassinosteroid (BR) signaling in fiber development of cotton (Gossypium hirsutum)
por: Lu, Rui, et al.
Publicado: (2018)

bHLH13 Regulates Jasmonate-Mediated Defense Responses and Growth
por: Huang, Huang, et al.
Publicado: (2018)

Alternative UNC13D Promoter Encodes a Functional Munc13-4 Isoform Predominantly Expressed in Lymphocytes and Platelets
por: Galgano, Donatella, et al.
Publicado: (2020)

Comparison of somatic mutation calling methods in amplicon and whole exome sequence data
por: Xu, Huilei, et al.
Publicado: (2014)

Proof of concept for multiplex amplicon sequencing for mutation identification using the MinION nanopore sequencer
por: Whitford, Whitney, et al.
Publicado: (2022)

SapTrap vectors for introducing point mutations with unc-119+ selection
por: Schwartz, Matthew, et al.
Publicado: (2018)

NtbHLH1, a JAF13-like bHLH, interacts with NtMYB6 to enhance proanthocyanidin accumulation in Chinese Narcissus
por: Fan, Yuxin, et al.
Publicado: (2021)

Deep amplicon sequencing for culture-free prediction of susceptibility or resistance to 13 anti-tuberculous drugs
por: Jouet, Agathe, et al.
Publicado: (2021)

UNC-116 and UNC-16 function with the NEKL-3 kinase to promote axon targeting
por: Drozd, Cody J., et al.
Publicado: (2023)

UNC13A in amyotrophic lateral sclerosis: from genetic association to therapeutic target
por: Willemse, Sean W, et al.
Publicado: (2023)

Exome sequencing identifies a novel UNC5D mutation in a severe myopic anisometropia family: A case report
por: Feng, Lei, et al.
Publicado: (2017)

Characterizing partial AZFc deletions of the Y chromosome with amplicon-specific sequence markers
por: Navarro-Costa, Paulo, et al.
Publicado: (2007)

Amplicon-Based High-Throughput Sequencing Method for Genotypic Characterization of Norovirus in Oysters
por: Fitzpatrick, Amy H., et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_v6qjvibpl57f4h7ro6lpqb3bgg