A novel pathogenesis of megacolon in Ncx/Hox11L.1 deficient mice.

Hatano, Masahiko; Aoki, Taito; Dezawa, Mari; Yusa, Sei-ichi; Iitsuka, Yoshinori; Koseki, Haruhiko; Taniguchi, Masaru; Tokuhisa, Takeshi

doi:10.1172/jci119593

Cited by 111 publications

(82 citation statements)

References 53 publications

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“…Hox11 is a central player in controlling spleen formation, perhaps through regulating cell survival, 31,32 and the two other genes appear important for specific neuronal functions. 33,34 Interspecies conservation of the primary sequences of these proteins is observed outside the homeobox domain suggesting common important biological functions (Figure 4d). It is noteworthy that Hox11L2 appears more closely related to Hox11 than Hox11L1.…”

Section: Leukemiamentioning

confidence: 98%

A new recurrent and specific cryptic translocation, t(5;14)(q35;q32), is associated with expression of the Hox11L2 gene in T acute lymphoblastic leukemia

et al. 2001

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FISH identified a cryptic t(5;14)(q35;q32) in T acute lymphoblastic leukemia (ALL), whereas it was not observed in B ALL samples. This translocation is present in five out of 23 (22%) children and adolescents with T ALL tested. RanBP17, a gene coding for a member of the importin ␤ protein family, and Hox11Like2, an orphan homeobox gene were mapped close to the chromosome 5 breakpoints and CTIP2, which is highly expressed during normal T cell differentiation, was localized in the vicinity of the chromosome 14 breakpoints. The Hox11L2 gene was found to be transcriptionally activated as a result of the translocation, probably under the influence of CTIP2 transcriptional regulation elements. These data establish the t(5;14)(q35;q32) as a major abnormality, and Hox11 family member activation as an important pathway in T ALL leukemogenesis. Leukemia (2001) 15, 1495-1504.

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Section: Leukemiamentioning

confidence: 98%

A new recurrent and specific cryptic translocation, t(5;14)(q35;q32), is associated with expression of the Hox11L2 gene in T acute lymphoblastic leukemia

et al. 2001

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“…The origin of Drg11-positive neurons and the fates of Mash1-positive precursors are also poorly understood. The Tlx family of homeobox genes contains three members, Tlx-1/Hox11, Enx/Hox11-L1/Tlx-2, and Rnx/ Hox11L2/Tlx-3 (Dube et al 1991;Hatano et al 1991;Kennedy et al 1991;Dear et al 1993Dear et al , 1995Raju et al 1993;Roberts et al 1994;Hatano et al 1997;Shirasawa et al 1997Shirasawa et al , 2000Logan et al 1998;Tang et al 1998). In the developing hindbrain and spinal cord, Rnx and Tlx-1 are initially expressed in longitudinal columns of cells, extending through the hindbrain and spinal cord ( Fig.…”

mentioning

confidence: 99%

Proper development of relay somatic sensory neurons and D2/D4 interneurons requires homeobox genes Rnx/Tlx-3 and Tlx-1

Qian

Shirasawa²,

Chen³

et al. 2002

Genes Dev.

104

124

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Trigeminal nuclei and the dorsal spinal cord are first-order relay stations for processing somatic sensory information such as touch, pain, and temperature. The origins and development of these neurons are poorly understood. Here we show that relay somatic sensory neurons and D2/D4 dorsal interneurons likely derive from Mash1-positive neural precursors, and depend on two related homeobox genes, Rnx and Tlx-1, for proper formation. Rnx and Tlx-1 maintain expression of Drg11, a homeobox gene critical for the development of pain circuitry, and are essential for the ingrowth of trkA+ nociceptive/thermoceptive sensory afferents to their central targets. We showed previously that Rnx is necessary for proper formation of the nucleus of solitary tract, the target for visceral sensory afferents. Together, our studies demonstrate a central role for Rnx and Tlx-1 in the development of two major classes of relay sensory neurons, somatic and visceral.

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“…Initial descriptions indicated that myenteric ganglion cell hyperplasia (submucosal ganglia were not studied) was part of the phenotype, 56,57 although this was not confirmed by another group. 58 Searches for mutations in ENDRB, HOX11L1, or other genes implicated in HSCR (eg, RET) mutations in humans with IND B yielded negative results.…”

Section: Pathogenesis Of Ind Bmentioning

confidence: 98%

Intestinal Neuronal Dysplasia Type B: An Updated Review of a Problematic Diagnosis

Kapur

Reyes‐Múgica

2018

Archives of Pathology &Amp; Laboratory Medicine

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Context.-Intestinal neuronal dysplasia type B (IND B) is a controversial histopathologic phenotype that has been associated with intestinal dysmotility, either as an isolated condition or in conjunction with established pathologic disorders (eg, Hirschsprung disease). Many factors contribute to the debate over the existence and/or clinical significance of IND B, including a large body of published data based on inconsistent diagnostic criteria and methods, which have fostered many unwarranted conclusions that lack sufficient scientific basis.Objective.-To critically analyze existing published data regarding IND B to provide supporting evidence-based diagnostic practice and to stimulate necessary and scientifically sound research.Data Sources.-This update focuses on published literature related to the pathology of IND B because without a reliable pathologic diagnosis, studies of epidemiology, pathogenesis, natural history, management, and outcome are all suspect. Problems with existing data are identified explicitly with suggestions as to how future investigations should be designed and evaluated to better understand this entity.Conclusions.-Inconsistencies in diagnostic criteria and methods used to define IND B justifiably encumber the universal acceptance of IND B as a neuropathologic etiology for intestinal dysmotility. IND B will remain a controversial diagnosis until rigorous, well-controlled scientific studies are conducted to establish reproducible and reliable diagnostic criteria that reliably translate from one laboratory to another.

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A novel pathogenesis of megacolon in Ncx/Hox11L.1 deficient mice.

Cited by 111 publications

References 53 publications

A new recurrent and specific cryptic translocation, t(5;14)(q35;q32), is associated with expression of the Hox11L2 gene in T acute lymphoblastic leukemia

A new recurrent and specific cryptic translocation, t(5;14)(q35;q32), is associated with expression of the Hox11L2 gene in T acute lymphoblastic leukemia

Proper development of relay somatic sensory neurons and D2/D4 interneurons requires homeobox genes Rnx/Tlx-3 and Tlx-1

Intestinal Neuronal Dysplasia Type B: An Updated Review of a Problematic Diagnosis

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