RET somatic mutations are underrecognized in Hirschsprung disease

Jiang, Qian; Liu, Fang; Miao, Chunyue; Li, Qi; Zhang, Zhen; Xiao, Ping; Su, Lin; Yu, Kaihui; Chen, Xiaoli; Zhang, Feng; Chakravarti, Aravinda; Li, Long

doi:10.1038/gim.2017.178

Cited by 21 publications

(29 citation statements)

References 29 publications

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“…In short segment HD, where the aganglionic segment does not extend beyond the upper sigmoid (80% of the cases) a strong sex bias exists with more affected males (sex ration four male/one female). In this line, it was recently shown that mosaicism of RET mutations in HD is still underestimated [96]. The associated Waardenburg Fig.…”

Section: Adult Neural Crest-derived Stem Cells and Sex-specific Diffementioning

confidence: 95%

“…For further information regarding craniofacial defects related to NC malformation, see [66,94]. In this line, it was recently shown that mosaicism of RET mutations in HD is still underestimated [96]. However, the potential occurrence and impact of sex-specific differences in prevalence and severity of such neurocristopathies disease are still underestimated.…”

Section: The Role Of Sex In Neuronal Development and Neural Stem Cellmentioning

confidence: 99%

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Sexual dimorphisms in adult human neural, mesoderm‐derived, and neural crest‐derived stem cells

et al. 2019

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Sexual dimorphisms contribute, at least in part, to the severity and occurrence of a broad range of neurodegenerative, cardiovascular, and bone disorders. In addition to hormonal factors, increasing evidence suggests that stem cell‐intrinsic mechanisms account for sex‐specific differences in human physiology and pathology. Here, we discuss sex‐related intrinsic mechanisms in adult stem cell populations, namely mesoderm‐derived stem cells, neural stem cells (NSCs), and neural crest‐derived stem cells (NCSCs), and their implications for stem cell differentiation and regeneration. We particularly focus on sex‐specific differences in stem cell‐mediated bone regeneration, in neuronal development, and in NSC‐mediated neuroprotection. Moreover, we review our own recently published observations regarding the sex‐dependent role of NF‐κB‐p65 in neuroprotection of human NCSC‐derived neurons and sex differences in NCSC‐related disorders, so‐called neurocristopathies. These observations are in accordance with the increasing evidence pointing toward sex‐specific differences in neurocristopathies and degenerative diseases like Parkinson's disease or osteoporosis. All findings discussed here indicate that sex‐specific variability in stem cell biology may become a crucial parameter for the design of future treatment strategies.

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Section: Adult Neural Crest-derived Stem Cells and Sex-specific Diffementioning

confidence: 95%

Section: The Role Of Sex In Neuronal Development and Neural Stem Cellmentioning

confidence: 99%

Sexual dimorphisms in adult human neural, mesoderm‐derived, and neural crest‐derived stem cells

et al. 2019

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“…In the past few years, the identification of novel susceptibility genes and variants for HSCR was based on the use of GWAS,GWES and next‐generation sequencing (NGS) approaches . All of them have fairly improved our knowledge about the genetic background of the disease.…”

Section: Other Genes and Susceptibility Locimentioning

confidence: 99%

“…In the past few years, the identification of novel susceptibility genes and variants for HSCR was based on the use of GWAS,GWES 20,25,[38][39][40][154][155][156][157][158][159][160][161] and next-generation sequencing (NGS) approaches. [162][163][164][165][166][167][168][169][170] All of them have fairly improved our knowledge about the genetic background of the disease. For instance, a recent GWAS has described that testis-specific A13 genetic variants (a potential susceptible locus in TCA) may affect the extent of aganglionosis during ENS development.…”

Section: New Approachesmentioning

confidence: 99%

What is new about the genetic background of Hirschsprung disease?

et al. 2019

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Hirschsprung disease (HSCR) is a rare congenital disorder caused by an incorrect enteric nervous system development due to a failure in migration, proliferation, differentiation and/or survival of enteric neural crest cells. HSCR is a complex genetic disease, where alterations at different molecular levels are required for the manifestation of the disease. In addition, a wide spectrum of mutations affecting many different genes cause HSCR, although the occurrence and severity of HSCR from many cases still remain unexplained. This review summarizes the current knowledge about molecular genetic basis of HSCR.

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“…To the Editor: We read "RET Somatic Mutations Are Underrecognized in Hirschsprung Disease," by Jiang et al 1 , recently published in your journal, with great interest. The authors hypothesize a contribution of RET somatic mutations to Hirschsprung disease (HSCR).…”

mentioning

confidence: 99%