NKX2.1

関: 転写因子

脊索前板と脊索から分泌されるソニック・ヘッジホッグ(Shh)は脳を腹側化し、NKX2.1の発現を誘導し、これが視床下部の発生を制御する(L. 421)

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1. サーファクタント機能障害の遺伝性疾患genetic disorders of surfactant dysfunction [show details]
…the gene NKX2-1, is a member of the homeodomain family of transcription factors and binds to specific sequences in the genes encoding ABCA3, SP-B, and SP-C to regulate their expression . NKX2-1 is a relatively …
2. 小児における運動過多な運動障害hyperkinetic movement disorders in children [show details]
…mutations in the NKX2-1 gene (also known as the TITF1 gene) on chromosome 14q13 . Mutations in the ADCY5 gene have been identified in rare individuals with a BHC phenotype who were negative for NKX2-1 mutations …
3. 舞踏病の概要overview of chorea [show details]
…behavioral difficulties. Most reported patients are heterozygous for mutations in the NKX2-1 gene (also known as the TITF1 gene) on chromosome 14q that encodes thyroid transcription factor. DRPLA is a rare…
4. 先天性甲状腺機能低下症の臨床的特徴および検出clinical features and detection of congenital hypothyroidism [show details]
…ataxia, are suspect for a NK2 homeobox 1 (NKX2.1, formerly called thyroid transcription factor-1 [TTF-1]) gene mutation (sometimes known as brain-lung-thyroid syndrome) . GLIS3 mutations have been described…
5. 乳幼児や小児のびまん性肺疾患（間質性疾患）の分類classification of diffuse lung disease interstitial lung disease in infants and children [show details]
…cassette transporter A3 (ABCA3) gene, and NKX2-1 (also called thyroid transcription factor 1). Gene deletions have also been reported for SFTPC, ABCA3, and NKX2-1/TTF1 . In addition, mutations in CSF2RA …

English Journal

14q13 distal microdeletion encompassing NKX2-1 and PAX9: Patient report and refinement of the associated phenotype.

Gentile M1, De Mattia D2, Pansini A1, Schettini F2, Buonadonna AL1, Capozza M2, Ficarella R1, Laforgia N2.
American journal of medical genetics. Part A.Am J Med Genet A.2016 Jul;170(7):1884-8. doi: 10.1002/ajmg.a.37691. Epub 2016 May 5.
Chromosome 14q11-q22 deletion syndrome (OMIM 613457) is a rare genomic disorder whose associated phenotype is heterogeneous, depending on the size, and, mostly, on the deleted region. We report the clinical and molecular characterization of a female newborn, whose phenotype was characterized by poor
PMID 27148860

Nervous system development in cephalopods: How egg yolk-richness modifies the topology of the mediolateral patterning system.

Buresi A1, Andouche A1, Navet S1, Bassaglia Y2, Bonnaud-Ponticelli L1, Baratte S3.
Developmental biology.Dev Biol.2016 Jul 1;415(1):143-56. doi: 10.1016/j.ydbio.2016.04.027. Epub 2016 May 2.
Cephalopods possess the most complex centralized nervous system among molluscs and the molecular determinants of its development have only begun to be explored. To better understand how evolved their brain and body axes, we studied Sepia officinalis embryos and investigated the expression patterns o
PMID 27151209

A Retinoic Acid-Hedgehog Cascade Coordinates Mesoderm-Inducing Signals and Endoderm Competence during Lung Specification.

Rankin SA1, Han L1, McCracken KW1, Kenny AP2, Anglin CT1, Grigg EA1, Crawford CM1, Wells JM1, Shannon JM3, Zorn AM4.
Cell reports.Cell Rep.2016 Jun 15. pii: S2211-1247(16)30658-1. doi: 10.1016/j.celrep.2016.05.060. [Epub ahead of print]
Organogenesis of the trachea and lungs requires a complex series of mesoderm-endoderm interactions mediated by WNT, BMP, retinoic acid (RA), and hedgehog (Hh), but how these pathways interact in a gene regulatory network is less clear. Using Xenopus embryology, mouse genetics, and human ES cell cul
PMID 27320915

Japanese Journal

Genetic basis for childhood interstitial lung disease among Japanese infants and children

Hayasaka Itaru,Cho Kazutoshi,Akimoto Takuma,Ikeda Masahiko,Uzuki Yutaka,Yamada Masafumi,Nakata Koh,Furuta Itsuko,Ariga Tadashi,Minakami Hisanori
Pediatric Research 83(2), 477-483, 2018-02
… Analyses of genetic variants were performed in all 62 patients for SFTPC and ABCA3, in all 21 PH patients for FOXF1, and in a limited number of patients for NKX2.1. … Results: Causative genetic variants for chILD were identified in 11 (18%) patients: SFTPC variants in six, NKX2.1 variants in three, and FOXF1 variants in two patients. …
NAID 120006459319