Results 51 to 60 of about 1,641 (164)
Phenotypical features of mutant Ikbkap and control embryos.
(A) Wild-type embryo at E8.5. Mutant Ikbkap3loxP/3loxP (B) and IkbkapΔ20/Δ20 (C) embryos at E9.5, photographed in the same magnification as the embryo shown in A.
Paula Dietrich (340949) +3 more
core +1 more source
Familial Dysautonomia: Mechanisms and Models
Hereditary Sensory and Autonomic Neuropathies (HSANs) compose a heterogeneous group of genetic disorders characterized by sensory and autonomic dysfunctions.
Paula Dietrich, Ioannis Dragatsis
doaj +3 more sources
– IkbkapΔ20/Δ20 mutant embryos are identical to Ikbkap3loxP/3loxPembryos.
Total number of embryos recovered at each stage is indicated; number of dead embryos is included in parenthesis.aMutant homozygous (Ikbkap3loxP/3loxP or IkbkapΔ20/Δ20) or compound heterozygous (Ikbkap3loxP/Δ20) embryos were recovered at Mendelian ratio ...
Paula Dietrich (340949) +3 more
core +1 more source
Targeted disruption of the mouse Ikbkap gene.
(A) Schematic representation of wild-type allele (WT), Ikbkap targeting vector (vector), and Ikbkap targeted allele (3loxP). Exons are represented by black rectangles, and black ovals represent the loxP sites.
Paula Dietrich (340949) +3 more
core +1 more source
“String” analysis of protein networks showing the potential interaction between the majority of the IKBKAP co-regulated functional candidate genes. (B) Prediction of transcription factors (TF) related to IKBKAP and co-regulated functional candidate genes.
Miguel Weil (222465) +14 more
core +1 more source
An increased incidence of neoplasia was recently reported in patients with familial dysautonomia. This suggests that, in addition to its role in neuronal development, the IKBKAP gene may also influence DNA repair. Here we report the case of a 28-year-old male with familial dysautonomia who was found to have neoplastic lesions detected post mortem as ...
Shvartsbeyn, Marianna +3 more
openaire +3 more sources
Validation experiments for IKBKAP predicted co-regulated functional candidate genes selected using the “Expander” micro arrays analysis tool were performed by qRT-PCR analysis on cDNA produced from FD hESC derived PNS neurons and on siRNA IKBKAP ...
Miguel Weil (222465) +14 more
core +1 more source
Background and Goals. To identify a multigene signature model for prognosis of non‐small‐cell lung cancer (NSCLC) patients, we first found 2146 consensus differentially expressed genes (DEGs) in NSCLC overlapped in Gene Expression Omnibus (GEO) and TCGA lung adenocarcinoma (LUAD) datasets using integrated analysis.
Hui Xie, Conghua Xie, Yun-Peng Chao
wiley +1 more source
Background Hereditary sensory and autonomic neuropathy (HSAN) type II is a group of extremely rare autosomal recessive neurological disorders with heterogeneous clinical and genetic characteristics.
James Jiqi Wang, Bo Yu, Zongzhe Li
doaj +1 more source
Ikbkap downregulation affects target innervation in vivo.
(A–B) The embryos were electroporated with control or ikbkap specific siRNA at E2/HH11, and allowed to develop until E6. The transverse serial sections were stained with Tuj1 antibody to display neuronal patterns and with Hoechst 33342 to visualize ...
Miguel Weil (222465) +4 more
core +1 more source

