Identification of the novel localization of tenascinX in the monkey choroid plexus and comparison with the mouse

Imura, K.; Sato, I.

doi:10.4081/ejh.2009.225

Cited by 4 publications

(4 citation statements)

References 28 publications

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“…Notably, the locus containing TNXB has been also associated with schizophrenia [Wei and Hemmings, ; Tochigi et al, ; Ripke et al, ], while mice lacking the gene for tenascin‐XB show increased anxiety [Kawakami and Matsumoto, ]. Moreover, it has been demonstrated that tenascin‐XB is expressed in adult mouse leptomeninges and choroid plexus [Imura and Sato, ] and in the interstitial connective tissue and around blood vessels in the choroid plexus in macaque monkeys [Imura and Sato, ], providing evidence for a role of TNXB also in primates' central nervous system. Studies based on cellular and organoid models in individuals with JHS/EDS‐HT and psychopathological symptoms could be important in order to assess the role of ECM alterations in this comorbidity.…”

Section: Discussionmentioning

confidence: 99%

Psychopathological manifestations of joint hypermobility and joint hypermobility syndrome/ Ehlers–Danlos syndrome, hypermobility type: The link between connective tissue and psychological distress revised

Sinibaldi

Ursini

Castori

2015

American J of Med Genetics Pt C

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Psychological distress is a known feature of generalized joint hypermobility (gJHM), as well as of its most common syndromic presentation, namely Ehlers-Danlos syndrome, hypermobility type (a.k.a. joint hypermobility syndrome - JHS/EDS-HT), and significantly contributes to the quality of life of affected individuals. Most published articles dealt with the link between gJHM (or JHS/EDS-HT) and anxiety-related conditions, and a novel generation of studies is emerging aimed at investigating the psychopathologic background of such an association. In this paper, literature review was carried out with a semi-systematic approach spanning the entire spectrum of psychopathological findings in gJHM and JHS/EDS-HT. Interestingly, in addition to the confirmation of a tight link between anxiety and gJHM, preliminary connections with depression, attention deficit (and hyperactivity) disorder, autism spectrum disorders, and obsessive-compulsive personality disorder were also found. Few papers investigated the relationship with schizophrenia with contrasting results. The mind-body connections hypothesized on the basis of available data were discussed with focus on somatotype, presumed psychopathology, and involvement of the extracellular matrix in the central nervous system. The hypothesis of positive Beighton score and alteration of interoceptive/proprioceptive/body awareness as possible endophenotypes in families with symptomatic gJHM or JHS/EDS-HT is also suggested. Concluding remarks addressed the implications of the psychopathological features of gJHM and JHS/EDS-HT in clinical practice.

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Section: Discussionmentioning

confidence: 99%

Psychopathological manifestations of joint hypermobility and joint hypermobility syndrome/ Ehlers–Danlos syndrome, hypermobility type: The link between connective tissue and psychological distress revised

Sinibaldi

Ursini

Castori

2015

American J of Med Genetics Pt C

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“…TNX-deficiency has been associated with primary myopathy (60,61), recurrent gastrointestinal perforation (62), and vesicoureteral reflux (63,64). TNX is expressed in leptomeninges and choroid plexus (34,65), suggesting neurologic roles: TNXB single nucleotide polymorphisms are associated with schizophrenia (66,67), and Tnxb-knockout mice have increased anxiety, improved memory, and higher sensorimotor coordination than controls (68).…”

Section: Congenital Adrenal Hyperplasia and Tenascin-x-the Cah-x Syndromementioning

confidence: 99%

Tenascin-X—Discovery and Early Research

Miller

2021

Front. Immunol.

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FIGURE 1 | The C4/CYP21/TNX gene locus. Top: Diagram of the short arm of chromosome 6; the telomere is to the left and the centromere is to the right. The MHC Class I and Class II regions are indicated with their principal human leukocyte antigen (HLA) genes; the~1 megabase region between these is the "Class III region", which includes the gene for tumor necrosis factor (TNF). Middle: Scale bar in kilobases (kb) and enlarged view of a portion of the Class III region (chrom 6p21.33); the arrows indicate transcriptional orientations. C2, complement factor C2; Bf, properedin factor Bf; RD is now known as NEFLE, negative elongation factor subunit E; CREB-RP, CREB-related protein. Bottom: The duplicated 30 kb C4/CYP21/TNX units and adjacent regions: STK19, serine/threonine kinase 19; C4A and C4B, genes for complement component 4; 21A, CYP21A1P pseudogene; 21B CYP21A2 gene; XA, YA, and YB, adrenal transcripts that lack open reading frames; XB, the TNXB gene; XB-S the short, adrenal-specific form of TNX, arises from the leftward transcription arrow within the XB gene, analogously to XA; ZA and ZB, adrenal-specific transcripts with open reading frames arising from promoters within the C4 genes; the ZA and ZB promoters are enhancer elements of the CYP21A1P and CYP21A2 promoters. Most TNX transcription arises from the untranslated exon at the 5'end of TNXB, but some also arises from two sites within CREB-RP. The vertical dotted lines designate the boundaries of the gene duplication event.

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“…TNX deficiency has been associated with primary myopathy [62,63], recurrent gastrointestinal perforation [64], and missense mutations in TNX have been found in vesicoureteral reflux [65,66]. TNX, which is expressed in the leptomeninges and choroid plexus [67,68], may play a role in brain and behavior. Single nucleotide polymorphisms in TNXB are associated with schizophrenia [69,70], and tnxb knockout mice have increased anxiety, improved memory and higher sensorimotor coordination than control animals [71].…”

Section: Tenascin-xmentioning

confidence: 99%

Tenascin-X, Congenital Adrenal Hyperplasia, and the CAH-X Syndrome

Miller

Merke

2018

Horm Res Paediatr

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Mutations of the CYP21A2 gene encoding adrenal 21-hydroxylase cause congenital adrenal hyperplasia (CAH). The CYP21A2 gene is partially overlapped by the TNXB gene, which encodes an extracellular matrix protein called Tenascin-X (TNX). Mutations affecting both alleles of TNXB cause a severe, autosomal recessive form of Ehlers-Danlos syndrome (EDS). Rarely, patients with severe, salt-wasting CAH have deletions of CYP21A2 that extend into TNXB, resulting in a “contiguous gene syndrome” consisting of CAH and EDS. Heterozygosity for TNXB mutations causing haploinsufficiency of TNX may be associated with the mild “hypermobility form” of EDS, which principally affects small and large joints. Studies of patients with salt-wasting CAH found that up to 10% had clinical features of EDS, associated joint hypermobility, haploinsufficiency of TNX and heterozygosity for TNXB mutations, now called “CAH-X.” These patients have joint hypermobility and a spectrum of other comorbidities associated with their connective tissue disorder, including chronic arthralgia, joint subluxations, hernias, and cardiac defects. Other disorders are beginning to be associated with TNX deficiency, including familial vesicoureteral reflux and neurologic disorders. Further work is needed to delineate the full spectrum of TNX-deficient disorders, with and without associated CAH.

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Identification of the novel localization of tenascinX in the monkey choroid plexus and comparison with the mouse

Cited by 4 publications

References 28 publications

Psychopathological manifestations of joint hypermobility and joint hypermobility syndrome/ Ehlers–Danlos syndrome, hypermobility type: The link between connective tissue and psychological distress revised

Psychopathological manifestations of joint hypermobility and joint hypermobility syndrome/ Ehlers–Danlos syndrome, hypermobility type: The link between connective tissue and psychological distress revised

Tenascin-X—Discovery and Early Research

Tenascin-X, Congenital Adrenal Hyperplasia, and the CAH-X Syndrome

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