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List of works by Akira Kinoshita

A Japanese patient with a mild Lenz-Majewski syndrome

scientific article published on 26 June 2007

A SNP in the ABCC11 gene is the determinant of human earwax type

scientific article

A Thai mother and son with distal symphalangism, hypoplastic carpal bones, microdontia, dental pulp stones, and narrowing of the zygomatic arch: a new distal symphalangism syndrome?

scientific article published on 01 April 2002

A catalog of 106 single-nucleotide polymorphisms (SNPs) and 11 other types of variations in genes for transforming growth factor-beta1 (TGF-beta1) and its signaling pathway

scientific article

A type of familial cleft of the soft palate maps to 2p24.2-p24.1 or 2p21-p12

scientific article published on 15 January 2010

Abnormal skin, limb and craniofacial morphogenesis in mice deficient for interferon regulatory factor 6 (Irf6)

scientific article

Brothers with novel compound heterozygous mutations in COL27A1 causing dental and genital abnormalities

scientific article published on 24 December 2020

Camurati-Engelmann disease type II: progressive diaphyseal dysplasia with striations of the bones

scientific article (publication date: 2002)

Characterization of placenta-specific microRNAs in fetal growth restriction pregnancy

scientific article published on 27 January 2013

Clinical application of fetal sex determination using cell-free fetal DNA in pregnant carriers of X-linked genetic disorders

scientific article published on 10 February 2011

Clonal dynamics in a case of acute monoblastic leukemia that later developed myeloproliferative neoplasm.

scientific article published on 7 February 2018

Congenital arhinia: molecular-genetic analysis of five patients

scientific article published in March 2007

Copy number variation of the antimicrobial-gene, defensin beta 4, is associated with susceptibility to cervical cancer

scientific article

Corrigendum: Ultra-sensitive droplet digital PCR for detecting a low-prevalence somatic GNAQ mutation in Sturge-Weber syndrome

scientific article

Deep sequencing reveals variations in somatic cell mosaic mutations between monozygotic twins with discordant psychiatric disease

scientific article published on 27 July 2017

Detection of de novo single nucleotide variants in offspring of atomic-bomb survivors close to the hypocenter by whole-genome sequencing

scientific article published on 26 December 2017

Developmentally dynamic changes of DNA methylation in the mouse Snurf/Snrpn gene

scientific article published on 27 November 2008

Epidemiology of human papillomavirus genotypes in pregnant Japanese women ⬇️

scientific article published on February 10, 2011

Expression of Somatostatin Receptor Type 2A and PTEN in Neuroendocrine Neoplasms Is Associated with Tumor Grade but Not with Site of Origin

scientific article published on 2 June 2016

Expression of unfolded protein response markers in the pheochromocytoma with Waardenburg syndrome: a case report

scientific article published on 22 June 2020

Familial brain arteriovenous malformation maps to 5p13-q14, 15q11-q13 or 18p11: linkage analysis with clipped fingernail DNA on high-density SNP array

scientific article

Four novel NIPBL mutations in Japanese patients with Cornelia de Lange syndrome

scientific article published on 01 May 2005

Generation and characterization of a conditional allele of Interferon Regulatory Factor 6.

scientific article

Genome analysis of myelodysplastic syndromes among atomic bomb survivors in Nagasaki

scientific article published on 31 January 2020

Genome-wide association study of HPV-associated cervical cancer in Japanese women

scientific journal article

Genomic strategy identifies a missense mutation in WD-repeat domain 65 (WDR65) in an individual with Van der Woude syndrome

scientific article published on 13 May 2011

Germline mutations causing familial lung cancer

scientific article

Haploinsufficiency of NSD1 causes Sotos syndrome

scientific article

Heterozygous TGFBR2 mutations in Marfan syndrome

scientific article

Identification of Pregnancy-Associated MicroRNAs in Maternal Plasma ⬇️

scientific article published on August 20, 2010

Identification of a 3.0-kb major recombination hotspot in patients with Sotos syndrome who carry a common 1.9-Mb microdeletion

scientific article

Identification of a homozygous frameshift variant in RFLNA in a patient with a typical phenotype of spondylocarpotarsal synostosis syndrome

scientific article published on 22 February 2019

Identification of a novel CCDC22 mutation in a patient with severe Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis and aggressive natural killer cell leukemia

scientific article published on 31 January 2019

Identification of endometrioid endometrial carcinoma-associated microRNAs in tissue and plasma

scientific article

Immunofluorescence analysis of DNA damage response protein p53-binding protein 1 in a case of uterine dedifferentiated leiomyosarcoma arising from leiomyoma

scientific article published on 16 September 2019

Initial viral load in cases of single human papillomavirus 16 or 52 persistent infection is associated with progression of later cytopathological findings in the uterine cervix

scientific article published on 19 August 2013

Intracystic Papillary Carcinoma of Breast Harbors Significant Genomic Alteration Compared with Intracystic Papilloma: Genome-wide Copy Number and LOH Analysis Using High-Density Single-Nucleotide Polymorphism Microarrays ⬇️

scientific article published on 09 June 2011

Isolated congenital anosmia with morphologically normal olfactory bulb in two Iranian families: a new clinical entity?

scientific article published on 01 June 2004

Molecular characterization of del(8)(p23.1p23.1) in a case of congenital diaphragmatic hernia

scientific article published on 01 July 2005

Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome.

scientific article published on 3 April 2009

Mutation and copy number analysis in paroxysmal kinesigenic dyskinesia families ⬇️

scientific article published on February 10, 2011

Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions

scientific article published on 08 March 2012

Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair

scientific article

No Evidence of Association between 8q24 and Susceptibility to Nonsyndromic Cleft Lip with or without Palate in Japanese Population ⬇️

scientific article published on 07 October 2011

Nonsense mutation in CFAP43 causes normal-pressure hydrocephalus with ciliary abnormalities

scientific article published on 19 April 2019

Novel mutations in the SIL1 gene in a Japanese pedigree with the Marinesco-Sjögren syndrome

scientific article published on 29 January 2010

PAX9 and TGFB3 are linked to susceptibility to nonsyndromic cleft lip with or without cleft palate in the Japanese: population-based and family-based candidate gene analyses

scientific article published on 25 October 2005

Patients with SATB2-associated syndrome exhibiting multiple odontomas

scientific article published on 21 December 2018

Pre-vaccination epidemiology of human papillomavirus infections in Japanese women with abnormal cytology

scientific article published on 27 July 2011

Precision of high-throughput single-nucleotide polymorphism genotyping with fingernail DNA: comparison with blood DNA

scientific article published on 01 October 2008

Predominantly placenta-expressed mRNAs in maternal plasma as predictive markers for twin-twin transfusion syndrome

scientific article published on 17 January 2014

Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome.

scientific article

Rapid growth of mitotically active cellular fibroma of the ovary: a case report and review of the literature

scientific article published on 22 October 2016

Single human papillomavirus 16 or 52 infection and later cytological findings in Japanese women with NILM or ASC-US.

scientific article published on 13 February 2014

TGFB1 mutations in four new families with Camurati-Engelmann disease: confirmation of independently arising LAP-domain-specific mutations

scientific article published on 01 May 2004

Target Capture/Next-Generation Sequencing for Nonsyndromic Cleft Lip and Palate in the Japanese Population

scientific article published on 23 July 2019

Targeting Adaptive IRE1α Signaling and PLK2 in Multiple Myeloma: Possible Anti-Tumor Mechanisms of KIRA8 and Nilotinib

scientific article published on 31 August 2020

The IHPK1 gene is disrupted at the 3p21.31 breakpoint of t(3;9) in a family with type 2 diabetes mellitus

scientific article

The possibility of microarray-based analysis using cell-free placental mRNA in maternal plasma

scientific article

Three brothers with a nonsense mutation in KAT6A caused by parental germline mosaicism

scientific article published on 09 November 2017

Ultra-sensitive droplet digital PCR for detecting a low-prevalence somatic GNAQ mutation in Sturge-Weber syndrome

scientific article published on 9 March 2016

Whole-exome sequencing and gene-based rare variant association tests suggest that PLA2G4E might be a risk gene for panic disorder.

scientific article published on 2 February 2018

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