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List of works by Kenichi Kashimada

A 45,X/46,XY DSD (Disorder of Sexual Development) case with an extremely uneven distribution of 46,XY cells between lymphocytes and gonads.

scientific article

A Case of MECP2 Duplication Syndrome with Gonadotropin-Dependent Precocious Puberty

scientific article

A Nonsense SMAD3 Mutation in a Girl with Familial Thoracic Aortic Aneurysm and Dissection without Joint Abnormality

scientific article published on 04 October 2019

A boy with "transient" growth hormone deficiency in prepubertal stage despite normal growth hormone secretion in childhood and after puberty

scientific article published on 14 November 2007

A case of generalized lipodystrophy-associated progeroid syndrome treated by leptin replacement with short and long-term monitoring of the metabolic and endocrine profiles

scientific article published on 08 November 2019

A highly specific heterologous enzyme immunoassay for 5 alpha-androstane-3 alpha, 17 beta-diol 17-glucuronide (androstanediol-17G) and developmental patterns of urinary androstanediol-17G excretions

scientific article published in March 2002

A novel COL11A1 missense mutation in siblings with non-ocular Stickler syndrome

scientific article published on 7 April 2016

A postzygotic KRAS mutation in a patient with Schimmelpenning syndrome presenting with lipomatosis, renovascular hypertension, and diabetes mellitus

scientific article published on 16 November 2018

A site-specific, single-copy transgenesis strategy to identify 5' regulatory sequences of the mouse testis-determining gene Sry

scientific article

Abdominal paraganglioma in a young woman with 1p36 deletion syndrome

scientific article published on 24 October 2016

Antagonistic regulation of Cyp26b1 by transcription factors SOX9/SF1 and FOXL2 during gonadal development in mice

scientific journal article

CYP26B1 declines postnatally in Sertoli cells independently of androgen action in the mouse testis

scientific article published on 22 November 2019

Clinical characteristics of adolescent cases with type A insulin resistance syndrome caused by heterozygous mutations in the β-subunit of INSR.

scientific article

Clinical course of patients with nonclassical 21-hydroxylase deficiency (21-OHD) diagnosed in infancy and childhood

scientific article published on 2 April 2008

Clinical, biochemical, and genetic features of non-classical 21-hydroxylase deficiency in Japanese children.

scientific article

Defects in growth and bone metabolism in klotho mutant mice are resistant to GH treatment

scientific article published in September 2002

FOXL2 and BMP2 act cooperatively to regulate follistatin gene expression during ovarian development

scientific article published on 17 November 2010

FOXL2 transcriptionally represses Sf1 expression by antagonizing WT1 during ovarian development in mice

scientific article published on 22 January 2014

Fibrocalculous pancreatic diabetes in a Japanese girl with severe motor and intellectual disabilities

scientific article published on 18 January 2016

Gonadal failure among female patients after hematopoietic stem cell transplantation for non-malignant diseases

scientific article published on 19 October 2019

Hematopoietic stem cell transplantation recovers insulin deficiency in type 1 diabetes mellitus associated with IPEX syndrome

scientific article published on 24 July 2019

Identical NR5A1 Missense Mutations in Two Unrelated 46,XX Individuals with Testicular Tissues

scientific journal article

Identification of a new case of hepatocyte nuclear factor-1beta mutation with highly varied phenotypes

scientific article published on 28 May 2004

Identification of suitable normalizing genes for quantitative real-time RT-PCR analysis of gene expression in fetal mouse gonads.

scientific article published on 11 September 2009

Improved growth velocity of a patient with Noonan-like syndrome with loose anagen hair (NS/LAH) without growth hormone deficiency by low-dose growth hormone therapy

scientific article published on 19 June 2015

In Vitro Enzyme Assay of CYP21A2 Mutation (R483Q) by A Novel Method Using Liquid Chromatography-Electrospray Ionization Tandem Mass Spectrometry (LC-ESI-MS/MS).

scientific article published on 08 May 2008

Initial high dose hydrocortisone (HDC) treatment for 21-hydroxylase deficiency (21-OHD) does not affect linear growth during the first three years of life.

scientific article published on 10 July 2012

Liquid chromatography-tandem mass spectrometric method for determination of salivary 17alpha-hydroxyprogesterone: a noninvasive tool for evaluating efficacy of hormone replacement therapy in congenital adrenal hyperplasia

scientific article published on 16 March 2008

Longitudinal analysis of growth and body composition of Japanese 21-OHD patients in childhood.

scientific article

Lower body weight and BMI at birth were associated with early adiposity rebound in 21-hydroxylase deficiency patients.

scientific article published on 19 August 2016

Molecular mechanisms of insulin resistance in 2 cases of primary insulin receptor defect-associated diseases

scientific article published on 9 February 2017

Myhre syndrome: Age-dependent progressive phenotype

scientific article published on 01 November 2017

Newborn screening for congenital adrenal hyperplasia in Tokyo, Japan from 1989 to 2013: a retrospective population-based study

scientific article published on 15 December 2015

Nr5a1 suppression during the fetal period optimizes ovarian development by fine-tuning of Notch signaling

Nr5a1 suppression during the murine fetal period optimizes ovarian development by fine-tuning Notch signaling

scientific article published on 15 April 2019

Peptidyl arginine deiminase 2 (Padi2) is expressed in Sertoli cells in a specific manner and regulated by SOX9 during testicular development

scientific article published in Scientific Reports

Perinatal factors affecting growth and development at age 3 years in extremely low birth weight infants born small for gestational age.

scientific article published on 30 January 2018

Prematurity at less than 24 weeks of gestation is a risk for prolonged hyperglycemia in extremely low-birth weight infants

scientific article published on 02 July 2020

RMRP mutations in Japanese patients with cartilage-hair hypoplasia

scientific article published on 01 December 2003

Similar frequency of paternal uniparental disomy involving chromosome 20q (patUPD20q) in Japanese and Caucasian patients affected by sporadic pseudohypoparathyroidism type Ib (sporPHP1B)

scientific article published on 19 May 2015

Sry: the master switch in mammalian sex determination

scientific article

TALEN-Mediated Gene Disruption on Y Chromosome Reveals Critical Role of EIF2S3Y in Mouse Spermatogenesis

scientific article published on 25 February 2015

The p.R92W variant of NR5A1/Nr5a1 induces testicular development of 46,XX gonads in humans, but not in mice: phenotypic comparison of human patients and mutation-induced mice

scientific article

The progression of salt wasting and the body weight change during the first two weeks of life in classical 21-hydroxylase deficiency patients

scientific article published on 01 October 2020

Total body irradiation for hematopoietic stem cell transplantation during early childhood is associated with the risk for diabetes mellitus.

scientific article published on 24 April 2018

Transcription activator-like effector nuclease-mediated transduction of exogenous gene into IL2RG locus

scientific article

Two cases of transient pseudohypoaldosteronism due to group B streptococcus pyelonephritis

scientific article published on 15 May 2008

Two novel HSD3B2 missense mutations with diverse residual enzymatic activities for Δ5-steroids

scientific article published on 16 January 2014

Two preterm infants with late onset circulatory collapse induced by levothyroxine sodium

scientific article published on 01 June 2010

Urinary calcium to creatinine ratio: a potential marker of secondary hyperparathyroidism in patients with vitamin D-dependent rickets type 1A.

scientific article published on 4 October 2014

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