Results 61 to 70 of about 1,641 (164)
Journal of Genetic Counseling, Volume 34, Issue 3, June 2025.Abstract Although guidelines have historically recommended deferring decisions about learning genomic information for conditions not actionable in childhood until adulthood, youth have increasing access to personal genomic information through research, clinical, and direct‐to‐consumer testing. However, little is known about young people's reactions to,
Haley N. Grimes +5 more
wiley +1 more source
BioMed Research International, Volume 2019, Issue 1, 2019., 2019 Background. There is little understanding of the molecular processes involved in the pathogenesis of osteoarthritis, limiting early diagnosis and effective treatment of OA. Use of genechips can provide insights into the molecular pathogenesis of diseases.
Ting Shi +3 more
wiley +1 more source
PLoS ONE, 2014 The splice site mutation in the IKBKAP gene coding for IKAP protein leads to the tissue-specific skipping of exon 20, with concomitant reduction in IKAP protein production.
David Cheishvili +6 more
doaj +1 more source
Generation of an Ikbkap allele lacking exon 20.
, 2013 (A) Schematic representation of wild-type allele (WT), Ikbkap3loxP allele (3loxP), and Ikbkap allele lacking exon 20 after Cre-mediated recombination (Δ20). Exons are represented by black rectangles, and black ovals represent the loxP sites.
Paula Dietrich (340949) +3 more
core +1 more source
Familial dysautonomia model reveals Ikbkap deletion causes apoptosis of Pax3 + progenitors and peripheral neurons [PDF]
Proceedings of the National Academy of Sciences, 2013 Significance Familial dysautonomia (FD) is a devastating developmental peripheral autonomic and sensory neuropathy caused by a mutation in the gene inhibitor of kappa B kinase complex-associated protein ( IKBKAP ).
Lynn, George +10 more
openaire +2 more sources
Case Reports in Genetics, Volume 2018, Issue 1, 2018., 2018 The clinical effect of T118M variant of the PMP22 gene has been controversial. Several studies have suggested that it may be autosomal recessive, partial loss of function, or a benign variant. Here we report three cases in further support that the T118M variant of the PMP22 gene is a partial loss of function variant.
Kwo Wei David Ho +2 more
wiley +1 more source
Disease Models & Mechanisms, 2016 Familial dysautonomia (FD) is a rare neurodegenerative disease caused by a mutation in intron 20 of the IKBKAP gene (c.2204+6T>C), leading to tissue-specific skipping of exon 20 and a decrease in the synthesis of the encoded protein IKAP (also known as ...
Mylène Hervé, El Chérif Ibrahim
doaj +1 more source
Sensorimotor control in the congenital absence of functional muscle spindles
Experimental Physiology, Volume 109, Issue 1, Page 27-34, 1 January 2024.Abstract Hereditary sensory and autonomic neuropathy type III (HSAN III), also known as familial dysautonomia or Riley–Day syndrome, results from an autosomal recessive genetic mutation that causes a selective loss of specific sensory neurones, leading to greatly elevated pain and temperature thresholds, poor proprioception, marked ataxia and ...
Vaughan G. Macefield +4 more
wiley +1 more source
Histological analyses of mutant Ikbkap and control embryos.
, 2013 (A–F) H&E-stained transverse sections through the head of E9.5 WT (A and D), E10.5 Ikbkap3loxP/3loxP (B and E) and E10.5 WT (C and F). A, B, D and E are shown in the same magnification for comparison.
Paula Dietrich (340949) +3 more
core +1 more source
Ikbkap downregulation affects expression of pJNK and NGF responsive genes in DRG neurons.
, 2014 DRG from the lumbar region of E10 embryos were electroporated with control or ikbkap specific siRNA, grown on laminin for 48 hours, and processed for QRT-PCR as described in methods. Data are presented as relative gene expression levels of mean ±SD.
Miguel Weil (222465) +4 more
core +1 more source