Search Results - "Sutani, Akito"
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In vitro generation of functional murine heart organoids via FGF4 and extracellular matrix
Published in Nature communications (03-09-2020)“…Our understanding of the spatiotemporal regulation of cardiogenesis is hindered by the difficulties in modeling this complex organ currently by in vitro…”
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2
The role of eutherian‐specific RTL1 in the nervous system and its implications for the Kagami‐Ogata and Temple syndromes
Published in Genes to cells : devoted to molecular & cellular mechanisms (01-03-2021)“…RTL1 (also termed paternal expressed 11 (PEG11)) is considered the major imprinted gene responsible for the placental and fetal/neonatal muscle defects that…”
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3
Autonomously functioning thyroid nodule due to a somatic TSHR mutation
Published in Pediatrics international (01-01-2022)Get full text
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4
The progression of salt‐wasting and the body weight change during the first 2 weeks of life in classical 21‐hydroxylase deficiency patients
Published in Clinical endocrinology (Oxford) (01-02-2021)“…Background One of the major purposes of newborn screening for 21‐hydroxylase deficiency (21OHD) is preventing life‐threatening adrenal crisis. However, the…”
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Marked clinical heterogeneity in congenital hyperinsulinism due to a novel homozygous ABCC8 mutation
Published in Clinical endocrinology (Oxford) (01-06-2021)“…Background The most severe forms of congenital hyperinsulinism (CHI) are caused by inactivating mutations of two KATP channel genes, KCNJ11 and ABCC8…”
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A novel SLC5A2 heterozygous variant in a family with familial renal glucosuria
Published in Human genome variation (01-12-2022)“…Familial renal glucosuria (FRG) is characterized by persistent glucosuria despite normal blood glucose levels in the absence of overt tubular dysfunction…”
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Clinical management of diazoxide-unresponsive congenital hyperinsulinism: A single-center experience
Published in Clinical Pediatric Endocrinology (01-01-2024)“…The most common cause of persistent hypoglycemia in newborns and children is congenital hyperinsulinism (CHI). Remarkable advancements in diagnostic tools and…”
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8
WDR11 is another causative gene for coloboma, cardiac anomaly and growth retardation in 10q26 deletion syndrome
Published in European journal of medical genetics (01-01-2020)“…10q26 deletion syndrome is caused by a rare chromosomal abnormality, and patients with this syndrome present with an extensive and heterogeneous phenotypic…”
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Familial and early recurrent pheochromocytoma in a child with a novel in-frame duplication variant of VHL
Published in Clinical Pediatric Endocrinology (2024)“…Pheochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumors often linked to underlying genetic variants. Genetic analysis can promote…”
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10
Adrenal suppression and anthropometric data at two years of age was not influenced by the initial hydrocortisone dose in patients with 21-hydroxylase deficiency
Published in Clinical Pediatric Endocrinology (01-01-2021)“…In contrast to the glucocorticoid maintenance therapy employed in patients with 21 hydroxylase deficiency (21OHD), the initial therapy remains to be optimized…”
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11
Gonadal failure among female patients after hematopoietic stem cell transplantation for non-malignant diseases
Published in Clinical Pediatric Endocrinology (01-01-2019)“…In addition to malignant diseases, hematopoietic stem cell transplantation (HSCT) is also a vital option as a curative therapy for non-malignant diseases, such…”
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Gonadal failure among female patients after hematopoietic stem cell transplantation for non-malignant diseases
Published in Clinical Pediatric Endocrinology (01-10-2019)“…[Abstract.] In addition to malignant diseases, hematopoietic stem cell transplantation (HSCT) is also a vital option as a curative therapy for non-malignant…”
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13
The High Relevance of 21-Deoxycortisol, (Androstenedione + 17α-Hydroxyprogesterone)/Cortisol, and 11-Deoxycortisol/17α-Hydroxyprogesterone for Newborn Screening of 21-Hydroxylase Deficiency
Published in The journal of clinical endocrinology and metabolism (25-11-2022)“…CONTEXTThere are limited reports on the detailed examination of steroid profiles for setting algorithms for 21-hydroxylase deficiency (21OHD) screening by…”
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14
The High Relevance of 21-Deoxycortisol, /Cortisol, and 11-Deoxycortisol/17[alpha]-Hydroxyprogesterone for Newborn Screening of 21-Hydroxylase Deficiency
Published in The journal of clinical endocrinology and metabolism (01-12-2022)“…Context: There are limited reports on the detailed examination of steroid profiles for setting algorithms for 21-hydroxylase deficiency (21OHD) screening by…”
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15
Preferable in vitro condition for maintaining faithful DNA methylation imprinting in mouse embryonic stem cells
Published in Genes to cells : devoted to molecular & cellular mechanisms (01-03-2018)“…Epigenetic properties of cultured embryonic stem cells (ESCs), including DNA methylation imprinting, are important because they affect the developmental…”
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16
Clinical management of diazoxide-unresponsive congenital hyperinsulinism: a single-center experience
Published in Clinical Pediatric Endocrinology (2024)“…The most common cause of persistent hypoglycemia in newborns and children is congenital hyperinsulinism (CHI). Remarkable advancements in diagnostic tools and…”
Get full text
Journal Article -
17
Familial and early recurrent pheochromocytoma in a child with a novel in-frame duplication variant of VHL
Published in Clinical Pediatric Endocrinology (2024)“…Pheochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumors often linked to underlying genetic variants. Genetic analysis can promote…”
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18
Total body irradiation for hematopoietic stem cell transplantation during early childhood is associated with the risk for diabetes mellitus
Published in Endocrine (01-07-2018)“…Background Hematopoietic stem cell transplantation (HSCT) is a curative treatment for life-threatening malignancies and related diseases. Recently, the…”
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Growth Hormone Injection Log Analysis with Electronic Injection Device for Qualifying Adherence to Low-Irritant Formulation and Exploring Influential Factors on Adherence
Published in Patient preference and adherence (31-08-2023)“…Although the treatment success of long-term growth hormone therapy (GHT) is dependent on maintaining patients' adherence to treatment, marked variations in…”
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