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List of works by Mariko Taniguchi-Ikeda

A 12p13 GRIN2B deletion is associated with developmental delay and macrocephaly

scientific article published on 15 September 2016

A case of a parthenogenetic 46,XX/46,XY chimera presenting ambiguous genitalia

scientific article published on 10 April 2020

A novel PIGN mutation and prenatal diagnosis of inherited glycosylphosphatidylinositol deficiency

scientific article published on 30 September 2015

A patient with autosomal recessive Alport syndrome due to segmental maternal isodisomy

scientific article

A pediatric patient with interstitial pneumonia due to enterovirus D68.

scientific article

Aberrant neuromuscular junctions and delayed terminal muscle fiber maturation in alpha-dystroglycanopathies

scientific article published on 10 March 2006

Acute rhabdomyolysis following viral infection with coxsackie A4 in a 50-day-old infant with Fukuyama congenital muscular dystrophy

scientific article published on 23 January 2020

Analysis of gene-expression profiles by oligonucleotide microarray in children with influenza

scientific article published on June 2006

Association of HMOX1 gene promoter polymorphisms with hyperbilirubinemia in the early neonatal period.

scientific article published on 28 April 2015

Basement membrane fragility underlies embryonic lethality in fukutin-null mice

scientific article

Breakpoint analysis of the recurrent constitutional t(8;22)(q24.13;q11.21) translocation

scientific article

Candidate genes for male factor infertility--validation

scientific article published on 22 August 2006

Cardiac involvement in Fukuyama muscular dystrophy is less severe than in Duchenne muscular dystrophy

scientific article published on 31 May 2017

Changes in the numbers of patients with acute gastroenteritis after voluntary introduction of the rotavirus vaccine in a Japanese children's primary emergency medical center

scientific article published on 31 March 2017

Chromosomal instability mediated by non-B DNA: cruciform conformation and not DNA sequence is responsible for recurrent translocation in humans.

scientific article published on 7 November 2008

Clinical factors associated with prehospital exacerbation of anaphylaxis in children

scientific article

Clinical features predicting group A streptococcal pharyngitis in a Japanese paediatric primary emergency medical centre.

scientific article

Comprehensive analysis of serum cytokines/chemokines in febrile children with primary human herpes virus-6B infection.

scientific article published on 23 June 2016

Congenital Cytomegalovirus Infection in Children with Autism Spectrum Disorder: Systematic Review and Meta-Analysis

scientific article published on 28 November 2017

Congenital chloride diarrhea needs to be distinguished from Bartter and Gitelman syndrome

scientific article published on 30 May 2018

Congenital hearing impairment associated with peripheral cochlear nerve dysmyelination in glycosylation-deficient muscular dystrophy

scientific article published on 26 May 2020

Conserved Neutralizing Epitope at Globular Head of Hemagglutinin in H3N2 Influenza Viruses

scientific article

Corrigendum: Novel missense mutation in DLL4 in a Japanese sporadic case of Adams-Oliver syndrome

scientific article

Cruciform DNA structure underlies the etiology for palindrome-mediated human chromosomal translocations

scientific article

Cryptic exon activation in SLC12A3 in Gitelman syndrome.

scientific article published on 27 October 2016

Crystal structures of the S6K1 kinase domain in complexes with inhibitors

scientific article

Current Situation of Treatment for Anaphylaxis in a Japanese Pediatric Emergency Center

scientific article published on 13 April 2016

De novo variants in RHOBTB2, an atypical Rho GTPase gene, cause epileptic encephalopathy

article

Deep-intronic variant of fukutin is the most prevalent point mutation of Fukuyama congenital muscular dystrophy in Japan

scientific article

Demographics and outcomes of patients with pediatric febrile convulsive status epilepticus

scientific article published on 11 February 2015

Detection of a Splice Site Variant in a Patient with Glomerulopathy and Fibronectin Deposits

scientific article published on 3 November 2017

Development of ultra-deep targeted RNA sequencing for analyzing X-chromosome inactivation in female Dent disease.

scientific article published on 19 February 2018

Early risk factors for mortality in children with seizure and/or impaired consciousness accompanied by fever without known etiology

scientific article published on 19 March 2018

Evaluation of BiliCare™ transcutaneous bilirubin device in Japanese newborns

scientific article published on 31 August 2017

Expression profiling of muscles from Fukuyama-type congenital muscular dystrophy and laminin-alpha 2 deficient congenital muscular dystrophy; is congenital muscular dystrophy a primary fibrotic disease?

scientific article

Extremely preterm infants small for gestational age are at risk for motor impairment at 3 years corrected age.

scientific article published on 8 August 2015

Female X-linked Alport syndrome with somatic mosaicism.

scientific article published on 31 October 2016

Fosphenytoin vs. continuous midazolam for pediatric febrile status epilepticus

scientific article published on 23 August 2018

Fukuyama muscular dystrophy: elucidation of the gene and pathogenesis and approaches toward molecular targeting therapy

scholarly article by Tatsushi Toda et al published 1 April 2013 in Seikagaku. The Journal of Japanese Biochemical Society

Fukuyama-type congenital muscular dystrophy (FCMD) and alpha-dystroglycanopathy

scientific article

Genetic variation affects de novo translocation frequency.

scientific article published on February 2006

Gestational Age-Dependent Increase of Survival Motor Neuron Protein in Umbilical Cord-Derived Mesenchymal Stem Cells

scientific article published on 5 September 2017

Gestational age-dependency of height and body mass index trajectories during the first 3 years in Japanese small-for-gestational age children

scientific article published on 09 December 2016

Identification of mutations in FN1 leading to glomerulopathy with fibronectin deposits.

scientific article published on 7 April 2016

Involvement of WNT Signaling in the Regulation of Gestational Age-Dependent Umbilical Cord-Derived Mesenchymal Stem Cell Proliferation.

scientific article published on 12 September 2017

Mechanistic aspects of the formation of α-dystroglycan and therapeutic research for the treatment of α-dystroglycanopathy: A review

scientific article published on 12 July 2016

Mitochondrial respiratory chain complex IV deficiency complicated with chronic intestinal pseudo-obstruction in a neonate

scientific article published on 6 June 2016

Molecular Targeting Therapy for Fukuyama Muscular Dystrophy ⬇️

scientific article published on 01 January 2012

National registry of patients with Fukuyama congenital muscular dystrophy in Japan

scientific article published on 10 August 2018

Next-generation sequencing discloses a nonsense mutation in the dystrophin gene from long preserved dried umbilical cord and low-level somatic mosaicism in the proband mother

scientific article published on 7 January 2016

Novel missense mutation in DLL4 in a Japanese sporadic case of Adams-Oliver syndrome

scientific article published on 27 April 2017

Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy ⬇️

scientific article published on October 5, 2011

Periomphalitis with Delayed Umbilical Cord Separation due to Alloimmune Neonatal Neutropenia

scientific article published in November 2016

Prenatal genetic testing for familial severe congenital protein C deficiency

scientific article published on 25 June 2015

Prevalence of small for gestational age (SGA) and short stature in children born SGA who qualify for growth hormone treatment at 3 years of age: Population-based study

scientific article published on 19 February 2016

Rare renal ciliopathies in non-consanguineous families that were identified by targeted resequencing.

scientific article published on 11 March 2016

Residual laminin-binding activity and enhanced dystroglycan glycosylation by LARGE in novel model mice to dystroglycanopathy.

scientific article

Restoration of Alpha Dystroglycan Glycosylation in Disease Models of Fukuyama Muscular Dystrophy

scientific article published on 09 May 2021

Restoration of the defect in radial glial fiber migration and cortical plate organization in a brain organoid model of Fukuyama muscular dystrophy

scientific article published on 17 September 2021

Screening of genes involved in chromosome segregation during meiosis I: in vitro gene transfer to mouse fetal oocytes.

scientific article

Screening of genes involved in chromosome segregation during meiosis I: toward the identification of genes responsible for infertility in humans

scientific journal article

Short and long-term outcomes in children with suspected acute encephalopathy

scientific article

Single gene disorder

scientific article published on 01 December 2005

Somatic mosaicism and variant frequency detected by next-generation sequencing in X-linked Alport syndrome

scientific article published on 27 May 2015

The zinc-binding region (ZBR) fragment of Emi2 can inhibit APC/C by targeting its association with the coactivator Cdc20 and UBE2C-mediated ubiquitylation

scientific article (publication date: 2014)

Transcutaneous bilirubin monitoring predicts unexplained late-onset hemolysis in a very low birthweight infant

scientific article

Two patients with PNKP mutations presenting with microcephaly, seizure, and oculomotor apraxia

scientific article published on 15 December 2017

Unexpected Mutations by CRISPR-Cas9 CTG Repeat Excision in Myotonic Dystrophy and Use of CRISPR Interference as an Alternative Approach

scientific article published on 22 May 2020

X-linked Alport syndrome associated with a synonymous p.Gly292Gly mutation alters the splicing donor site of the type IV collagen alpha chain 5 gene

scientific article

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