Lista de obras - Kenichi Kashimada - Dominio Público Uruguay

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

artículo científico publicado en 2015

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

artículo científico publicado en 2016

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

artículo científico publicado en 2019

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

artículo científico publicado en 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

artículo científico publicado en 2002

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

artículo científico publicado en 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

artículo científico publicado en 2014

Abdominal paraganglioma in a young woman with 1p36 deletion syndrome.

artículo científico publicado en 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

artículo científico publicado en 2019

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

artículo científico publicado en 2018

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

artículo científico publicado en 2008

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

artículo científico publicado en 2015

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

artículo científico publicado en 2002

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

artículo científico publicado en 2010

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

artículo científico publicado en 2014

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

artículo científico publicado en 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

artículo científico publicado en 2004

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

artículo científico publicado en 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).

artículo científico publicado en 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.

artículo científico publicado en 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

artículo científico publicado en 2008

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

artículo científico publicado en 2012

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

artículo científico publicado en 2016

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

artículo científico publicado en 2017

Myhre syndrome: Age-dependent progressive phenotype

artículo científico publicado en 2017

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

artículo científico publicado en 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

artículo científico publicado en 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.

artículo científico publicado en 2018

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

artículo científico publicado en 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)

artículo científico publicado en 2015

Sry: the master switch in mammalian sex determination

artículo científico publicado en 2010

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

artículo científico publicado en 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

artículo científico publicado en 2016

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

artículo científico publicado en 2020

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

artículo científico publicado en 2018

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

artículo científico publicado en 2014

Two cases of transient pseudohypoaldosteronism due to group B streptococcus pyelonephritis

artículo científico publicado en 2008

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

artículo científico publicado en 2014

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

artículo científico publicado en 2010

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

artículo científico publicado en 2014

Lista de obras de 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.

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

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

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

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

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

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

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

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

Abdominal paraganglioma in a young woman with 1p36 deletion syndrome.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Myhre syndrome: Age-dependent progressive phenotype

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

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

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

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

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

RMRP mutations in Japanese patients with cartilage-hair hypoplasia

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

Sry: the master switch in mammalian sex determination

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

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

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

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

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

Two cases of transient pseudohypoaldosteronism due to group B streptococcus pyelonephritis

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

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

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