Lista de obras - Tao Cai - Dominio Público Uruguay

A novel case of unilateral blepharophimosis syndrome and mental retardation associated with de novo trisomy for chromosome 3q ⬇️

artículo científico publicado el 1 de septiembre de 1997

A novel deletion mutation in KMT2A identified in a child with ID/DD and blood eosinophilia

scientific article published on 06 March 2019

A novel isoform of beta-spectrin II localizes to cerebellar Purkinje-cell bodies and interacts with neurofibromatosis type 2 gene product schwannomin

artículo científico publicado en 2001

A novel recessive mutation in <i>OXR1</i> is identified in patient with hearing loss recapitulated by the knockdown zebrafish

artículo científico publicado en 2022

Analysis of large phenotypic variability of EEC and SHFM4 syndromes caused by K193E mutation of the TP63 gene

artículo científico publicado en 2012

Biochemical and phenotypic abnormalities in kynurenine aminotransferase II-deficient mice

artículo científico publicado en 2004

Biochemical and structural characterization of mouse mitochondrial aspartate aminotransferase, a newly identified kynurenine aminotransferase-IV

artículo científico publicado en 2011

Biochemical and structural properties of mouse kynurenine aminotransferase III

artículo científico publicado en 2009

Characterization of kynurenine aminotransferase III, a novel member of a phylogenetically conserved KAT family.

artículo científico publicado en 2006

Co-regulation of intragenic microRNA miR-153 and its host gene Ia-2 β: identification of miR-153 target genes with functions related to IA-2β in pancreas and brain

artículo científico publicado en 2013

Deletion of Ia-2 and/or Ia-2β in mice decreases insulin secretion by reducing the number of dense core vesicles

scientific journal article

Deletion of the secretory vesicle proteins IA-2 and IA-2beta disrupts circadian rhythms of cardiovascular and physical activity.

artículo científico publicado en 2009

Dental Abnormalities Caused by Novel Compound Heterozygous CTSK Mutations.

artículo científico publicado en 2015

Elf3 encodes a novel 200-kD beta-spectrin: role in liver development.

artículo científico publicado en 1999

Expression of insulinoma-associated 2 (INSM2) in pancreatic islet cells is regulated by the transcription factors Ngn3 and NeuroD1

artículo científico publicado en 2011

Genes with de novo mutations are shared by four neuropsychiatric disorders discovered from NPdenovo database

artículo científico publicado en 2015

Genes with de novo mutations are shared by four neuropsychiatric disorders discovered from NPdenovo database

artículo científico publicado en 2015

Genetic analysis: Wnt and other pathways in nonsyndromic tooth agenesis

artículo científico publicado en 2018

Genomic structure, chromosomal mapping, and muscle-specific expression of a PH domain-associated intronless gene, cded/lior.

artículo científico publicado en 1999

Identification of Novel Compound Mutations in PLA2G6-Associated Neurodegeneration Patient with Characteristic MRI Imaging.

artículo científico publicado en 2016

Identification of a novel Cys146X mutation of SOD1 in familial amyotrophic lateral sclerosis by whole-exome sequencing.

artículo científico publicado en 2012

Identification of elf1, a beta-spectrin, in early mouse liver development

artículo científico publicado el 1 de marzo de 1998

Identification of mouse itih-4 encoding a glycoprotein with two EF-hand motifs from early embryonic liver ⬇️

artículo científico publicado el 29 de mayo de 1998

Identification of multiple ACVRL1 mutations in patients with pulmonary arterial hypertension by targeted exome capture.

artículo científico publicado en 2016

Identification of novel mutations in the HbF repressor gene BCL11A in patients with autism and intelligence disabilities.

artículo científico publicado en 2017

Insulinoma-Associated Protein IA-2, a Vesicle Transmembrane Protein, Genetically Interacts with UNC-31/CAPS and Affects Neurosecretion in Caenorhabditis elegans.

artículo científico publicado en 2004

Loss of the transcriptional repressor PAG-3/Gfi-1 results in enhanced neurosecretion that is dependent on the dense-core vesicle membrane protein IDA-1/IA-2.

artículo científico publicado en 2009

Lysosomal storage disease in the brain: mutations of the β-mannosidase gene identified in autosomal dominant nystagmus

artículo científico publicado en 2015

Mutations in WNT10B Are Identified in Individuals with Oligodontia

artículo científico publicado en 2016

PJA1, encoding a RING-H2 finger ubiquitin ligase, is a novel human X chromosome gene abundantly expressed in brain

artículo científico publicado en 2002

Pathophysiologic changes in IA-2/IA-2β null mice are secondary to alterations in the secretion of hormones and neurotransmitters.

artículo científico publicado en 2015

Quantitative analysis of mouse pancreatic islet architecture by serial block-face SEM.

artículo científico publicado en 2014

RESP18, a homolog of the luminal domain IA-2, is found in dense core vesicles in pancreatic islet cells and is induced by high glucose.

artículo científico publicado en 2007

Small cell lung cancer growth is inhibited by miR-342 through its effect of the target gene IA-2

artículo científico publicado en 2016

Structural insight into the inhibition of human kynurenine aminotransferase I/glutamine transaminase K

artículo científico publicado en 2009

Structure, expression, and function of kynurenine aminotransferases in human and rodent brains

artículo científico publicado en 2010

Substrate specificity and structure of human aminoadipate aminotransferase/kynurenine aminotransferase II

artículo científico publicado en 2008

TCF3, a novel positive regulator of osteogenesis, plays a crucial role in miR-17 modulating the diverse effect of canonical Wnt signaling in different microenvironments

artículo científico publicado en 2013

Targeted next-generation sequencing reveals multiple deleterious variants in OPLL-associated genes

artículo científico publicado en 2016

The Fas/Fap-1/Cav-1 complex regulates IL-1RA secretion in mesenchymal stem cells to accelerate wound healing.

artículo científico publicado en 2018

The de novo missense mutation N117S in skeletal muscle α‑actin 1 causes a mild form of congenital nemaline myopathy

artículo científico publicado en 2016

The effects of nitrendipine on the quality of life in the elderly patients with isolated systolic hypertension (ISH)

artículo científico publicado el 1 de octubre de 1992

The minimal promoter region of the dense-core vesicle protein IA-2: transcriptional regulation by CREB.

artículo científico publicado en 2014

The structure of receptor-associated protein (RAP)

artículo científico publicado en 2007

The zinc-finger transcription factor INSM1 is expressed during embryo development and interacts with the Cbl-associated protein.

artículo científico publicado en 2002

Thermal stability, pH dependence and inhibition of four murine kynurenine aminotransferases

artículo científico publicado en 2010

Three intellectual disability-associated de novo mutations in MECP2 identified by trio-WES analysis

scientific article published on 11 May 2020

Treatment of lipoid proteinosis due to the p.C220G mutation in ECM1, a major allele in Chinese patients.

artículo científico publicado en 2014

Lista de obras de Tao Cai

A novel case of unilateral blepharophimosis syndrome and mental retardation associated with de novo trisomy for chromosome 3q ⬇️

A novel deletion mutation in KMT2A identified in a child with ID/DD and blood eosinophilia

A novel isoform of beta-spectrin II localizes to cerebellar Purkinje-cell bodies and interacts with neurofibromatosis type 2 gene product schwannomin

A novel recessive mutation in <i>OXR1</i> is identified in patient with hearing loss recapitulated by the knockdown zebrafish

Analysis of large phenotypic variability of EEC and SHFM4 syndromes caused by K193E mutation of the TP63 gene

Biochemical and phenotypic abnormalities in kynurenine aminotransferase II-deficient mice

Biochemical and structural characterization of mouse mitochondrial aspartate aminotransferase, a newly identified kynurenine aminotransferase-IV

Biochemical and structural properties of mouse kynurenine aminotransferase III

Characterization of kynurenine aminotransferase III, a novel member of a phylogenetically conserved KAT family.

Co-regulation of intragenic microRNA miR-153 and its host gene Ia-2 β: identification of miR-153 target genes with functions related to IA-2β in pancreas and brain

Deletion of Ia-2 and/or Ia-2β in mice decreases insulin secretion by reducing the number of dense core vesicles

Deletion of the secretory vesicle proteins IA-2 and IA-2beta disrupts circadian rhythms of cardiovascular and physical activity.

Dental Abnormalities Caused by Novel Compound Heterozygous CTSK Mutations.

Elf3 encodes a novel 200-kD beta-spectrin: role in liver development.

Expression of insulinoma-associated 2 (INSM2) in pancreatic islet cells is regulated by the transcription factors Ngn3 and NeuroD1

Genes with de novo mutations are shared by four neuropsychiatric disorders discovered from NPdenovo database

Genes with de novo mutations are shared by four neuropsychiatric disorders discovered from NPdenovo database

Genetic analysis: Wnt and other pathways in nonsyndromic tooth agenesis

Genomic structure, chromosomal mapping, and muscle-specific expression of a PH domain-associated intronless gene, cded/lior.

Identification of Novel Compound Mutations in PLA2G6-Associated Neurodegeneration Patient with Characteristic MRI Imaging.

Identification of a novel Cys146X mutation of SOD1 in familial amyotrophic lateral sclerosis by whole-exome sequencing.

Identification of elf1, a beta-spectrin, in early mouse liver development

Identification of mouse itih-4 encoding a glycoprotein with two EF-hand motifs from early embryonic liver ⬇️

Identification of multiple ACVRL1 mutations in patients with pulmonary arterial hypertension by targeted exome capture.

Identification of novel mutations in the HbF repressor gene BCL11A in patients with autism and intelligence disabilities.

Insulinoma-Associated Protein IA-2, a Vesicle Transmembrane Protein, Genetically Interacts with UNC-31/CAPS and Affects Neurosecretion in Caenorhabditis elegans.

Loss of the transcriptional repressor PAG-3/Gfi-1 results in enhanced neurosecretion that is dependent on the dense-core vesicle membrane protein IDA-1/IA-2.

Lysosomal storage disease in the brain: mutations of the β-mannosidase gene identified in autosomal dominant nystagmus

Mutations in WNT10B Are Identified in Individuals with Oligodontia

PJA1, encoding a RING-H2 finger ubiquitin ligase, is a novel human X chromosome gene abundantly expressed in brain

Pathophysiologic changes in IA-2/IA-2β null mice are secondary to alterations in the secretion of hormones and neurotransmitters.

Quantitative analysis of mouse pancreatic islet architecture by serial block-face SEM.

RESP18, a homolog of the luminal domain IA-2, is found in dense core vesicles in pancreatic islet cells and is induced by high glucose.

Small cell lung cancer growth is inhibited by miR-342 through its effect of the target gene IA-2

Structural insight into the inhibition of human kynurenine aminotransferase I/glutamine transaminase K

Structure, expression, and function of kynurenine aminotransferases in human and rodent brains

Substrate specificity and structure of human aminoadipate aminotransferase/kynurenine aminotransferase II

TCF3, a novel positive regulator of osteogenesis, plays a crucial role in miR-17 modulating the diverse effect of canonical Wnt signaling in different microenvironments

Targeted next-generation sequencing reveals multiple deleterious variants in OPLL-associated genes

The Fas/Fap-1/Cav-1 complex regulates IL-1RA secretion in mesenchymal stem cells to accelerate wound healing.

The de novo missense mutation N117S in skeletal muscle α‑actin 1 causes a mild form of congenital nemaline myopathy

The effects of nitrendipine on the quality of life in the elderly patients with isolated systolic hypertension (ISH)

The minimal promoter region of the dense-core vesicle protein IA-2: transcriptional regulation by CREB.

The structure of receptor-associated protein (RAP)

The zinc-finger transcription factor INSM1 is expressed during embryo development and interacts with the Cbl-associated protein.

Thermal stability, pH dependence and inhibition of four murine kynurenine aminotransferases

Three intellectual disability-associated de novo mutations in MECP2 identified by trio-WES analysis

Treatment of lipoid proteinosis due to the p.C220G mutation in ECM1, a major allele in Chinese patients.