A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome

A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome

10.1186/s13630-016-0029-1

Saved in:

書目詳細資料
Main Authors:	Oud, M.M, Bonnard, C, Mans, D.A, Altunoglu, U, Tohari, S, Ng, A.Y.J, Eskin, A, Lee, H, Rupar, C.A, Wagenaar, N.P, Wu, K.M, Lahiry, P, Pazour, G.J, Nelson, S.F, Hegele, R.A, Roepman, R, Kayserili, H, Venkatesh, B, Siu, V.M, Reversade, B, Arts, H.H
其他作者:	PAEDIATRICS
格式:	Article
出版:	2020
主題:	intestinal cell kinase protein kinase unclassified drug animal cell Article axoneme bone dysplasia brain disease case report cell disruption controlled study endocrine cerebroosteodysplasia syndrome endocrine disease eukaryotic flagellum fetus gene gene mapping gene mutation gene sequence homozygosity human human cell ICK gene immunocytochemistry in vitro study mouse nonhuman priority journal protein localization
在線閱讀:	https://scholarbank.nus.edu.sg/handle/10635/178928
標簽:	添加標簽沒有標簽, 成為第一個標記此記錄!

相似書籍

Gene expression characteristics of osteoblast differentiation in human umbilical cord mesenchymal stem cells induced by demineralized bone matrix
由: Sittisak Honsawek, et al.
出版: (2007)

Exploration of the functional significance of mig-2 in human cancer cell susceptibility to cytotoxic agents and cell growth control: A pilot study
由: LIU KUN
出版: (2011)

Molecular pathways reflecting poor intrauterine growth are found in Wharton's jelly-derived mesenchymal stem cells
由: Sukarieh R., et al.
出版: (2021)

Clustering of sex hormone disruptors in Singapore's marine environment
由: Gong, Y., et al.
出版: (2013)

Oxidative stress promotes exit from the stem cell state and spontaneous neuronal differentiation
由: Hu, Q, et al.
出版: (2020)

Transcriptional targeting to brain cells: Engineering cell type-specific promoter containing cassettes for enhanced transgene expression
由: Boulaire, J., et al.
出版: (2014)

Targeting Polo-like Kinase 1 in Glioma Propagating Cells
由: FOONG SHU FEN CHARLENE
出版: (2012)

DPhK-γ, a putative Drosophila kinase with homology to vertebrate phosphorylase kinase γ subunits: molecular characterisation of the gene and phenotypic analysis of loss of function mutants
由: Bahri, S.M., et al.
出版: (2014)

Comparative evaluation of the effects of statins on human stem and cancer cells in vitro
由: Gauthaman, K., et al.
出版: (2011)

Fetal therapy: 2020 and beyond
由: Choolani, M., et al.
出版: (2011)

Dissecting early differentially expressed genes in a mixture of differentiating embryonic stem cells
由: Hong F., et al.
出版: (2019)

Rel is required for morphogenesis of resting cells in Mycobacterium smegmatis
由: Wu, M.-L, et al.
出版: (2020)

Cofilin immunolabelling correlates with depth of invasion in gastrointestinal endocrine cell tumors
由: Yan, B., et al.
出版: (2012)

A transcriptional response to replication stress selectively expands a subset of Brca2-mutant mammary epithelial cells
由: Najafabadi, MG, et al.
出版: (2023)

Genome wide expression profiling of cancer cell lines cultured in microgravity reveals significant dysregulation of cell cycle and MicroRNA gene networks
由: Vidyasekar P., et al.
出版: (2019)

The characterization of the two new genes, PTGS2 and PSN2 involving in the T lymphocyte apoptosis of lupus patients: Role of genetic polymorphism and epigenetic alteration
由: Nattiya Hirankarn, et al.
出版: (2009)

Notch signaling in adipogenic differentiation of single-clone-derived mesenchymal stem cells isolated from human adipose tissue
由: Thanaphum Osathanon, et al.
出版: (2013)

The characterization of the two new genes, PTGS2 and PSN2 involving in the T lymphocyte apoptosis of lupus patients: Role of genetic polymorphism and epigenetic alteration
由: Nattiya Hirankarn, et al.
出版: (2006)

Gene expression characteristics of osteoblast differentiation in human umbilical cord mesenchymal stem cells induced by demineralized bone matrix
由: Sittisak Honsawek, et al.
出版: (2011)

Genomic imbalance of HMMR/RHAMM regulates the sensitivity and response of malignant peripheral nerve sheath tumour cells to aurora kinase inhibition
由: Mohan, P, et al.
出版: (2020)

Development of a synthetic gene network to modulate gene expression by mechanical forces
由: Kis, Z, et al.
出版: (2020)

A novel methodology to probe endothelial differential gene expression profile reveals ovel genes
由: Shen, Y., et al.
出版: (2011)

Identification of genes which regulate stromadependent in vitro hematopoiesis
由: Periasamy P., et al.
出版: (2019)

Multiple regulatory regions control the transcription of medaka germ gene vasa
由: Li, M., et al.
出版: (2014)

Dietary restriction protects against diethylnitrosamine-induced hepatocellular tumorigenesis by restoring the disturbed gene expression profile
由: Duan, T, et al.
出版: (2020)

2,5-Dihydroxyacetophenone Induces Apoptosis of Multiple Myeloma Cells by Regulating the MAPK Activation Pathway
由: Ko, J.-H, et al.
出版: (2020)

Monocyte-derived factors including PLA2G7 induced by macrophage-nasopharyngeal carcinoma cell interaction promote tumor cell invasiveness
由: Low H.B., et al.
出版: (2020)

Hypomethylation associated enhanced transcription of trefoil factor-3 mediates tamoxifen-stimulated oncogenicity of ER+ endometrial carcinoma cells
由: Pandey, V, et al.
出版: (2020)

Evaluation of an Actinomycin D/VX-680 aurora kinase inhibitor combination in p53-based cyclotherapy.
由: Rao, B, et al.
出版: (2020)

T cell receptor β chain RFLP in Chinese, Indians and Malays from Singapore
由: Tan, J.A.M.A., et al.
出版: (2013)

Expression of three members of the calcium-dependent protein kinase gene family in Arabidopsis thaliana
由: Hong, Y., et al.
出版: (2014)

Consistent and differential genetic aberrations between esophageal dysplasia and squamous cell carcinoma detected by array comparative genomic hybridization
由: Shi, Z.-Z, et al.
出版: (2020)

Identification of a cis-acting element in the rat α-fetoprotein gene and its specific binding proteins in F9 cells during retinoic acid-induced differentiation
由: Chen, H., et al.
出版: (2014)

Insect cell line dependent gene expression of recombinant human tumor necrosis factor-β
由: Chai, H., et al.
出版: (2014)

Antigen presenting properties of a myeloid dendritic-like cell in murine spleen
由: Hey Y.-Y., et al.
出版: (2019)

Development of new human stem cell - derived cellular vehicles for glioma gene therapy
由: ZHAO YING
出版: (2010)

Identification of Pluripotency Genes in the Fish Medaka
由: WANG DANKE
出版: (2012)

Bio-engineering insulin-secreting cells from embryonic stem cells: A review of progress
由: Roche, E., et al.
出版: (2014)

Laticifer-specific gene expression in Hevea brasiliensis (rubber tree)
由: Kush, A., et al.
出版: (2014)

Micropatterned matrix directs differentiation of human mesenchymal stem cells towards myocardial lineage
由: Tay, C.Y., et al.
出版: (2014)