21 Result(s)
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Hiroyasu Tsukaguchi
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Open AccessCharacterization of cytoskeletal and structural effects of INF2 variants causing glomerulopathy and neuropathy
Focal segmental glomerulosclerosis (FSGS) is a common glomerular injury leading to end-stage renal disease. Monogenic FSGS is primarily ascribed to decreased podocyte integrity. Variants between residues 184 a...
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Open AccessMechanism of cystogenesis by Cd79a-driven, conditional mTOR activation in develo** mouse nephrons
Polycystic kidney disease (PKD) is a common genetic disorder arising from developmental and postnatal processes. Defects in primary cilia and their signaling (eg, mTOR) underlie the pathogenesis. However, how ...
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Correction to: Decreased urinary excretion of the ectodomain form of megalin (A-megalin) in children with OCRL gene mutations
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Open AccessPositive renal familial history in IgA nephropathy is associated with worse renal outcomes: a single-center longitudinal study
IgA nephropathy (IgAN) is the most common primary glomerulonephritis worldwide. Although most IgAN cases are sporadic, few show a familial aggregation. However, the prevalence and prognosis of IgAN individuals...
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Open AccessImmune-complex glomerulonephritis with a membranoproliferative pattern in Frasier syndrome: a case report and review of the literature
Mutations in the Wilms tumor 1 gene cause a spectrum of podocytopathy ranging from diffuse mesangial sclerosis to focal segmental glomerulosclerosis. In a considerable fraction of patients with Wilms tumor 1 muta...
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The creatinine/cystatin C ratio provides effective evaluation of muscle mass in kidney transplant recipients
Measuring muscle mass is an important step in detecting sarcopenia. The evaluation of sarcopenia is also important for kidney transplant recipients. Methods for estimating muscle mass have been established usi...
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Hereditary Proteinuric Glomerular Disorders
A 26-year-old male first manifested asymptomatic proteinuria at age 16 years at a regular checkup. Because of persistent proteinuria, he was referred for a consultation with a nephrologist. Urinalysis by dipst...
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Open AccessA familial case of Galloway-Mowat syndrome due to a novel TP53RK mutation: a case report
Galloway–Mowat syndrome (GAMOS) is a rare hereditary renal–neurological disease characterized by early-onset steroid-resistant nephrotic syndrome in combination with microcephaly and brain anomalies. Recently,...
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Open AccessMutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment
No efficient treatment exists for nephrotic syndrome (NS), a frequent cause of chronic kidney disease. Here we show mutations in six different genes (MAGI2, TNS2, DLC1, CDK20, ITSN1, ITSN2) as causing NS in 17 fa...
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Open AccessSmall-Vessel Vasculopathy Due to Aberrant Autophagy in LAMP-2 Deficiency
Lysosomal associated membrane protein 2 (LAMP2) is physiologically implicated in autophagy. A genetic LAMP2 defect causes Danon disease, which consists of two major phenotypes of myopathy and cardiomyopathy. In a...
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Evaluation of physical activity in sarcopenic conditions of kidney transplantation recipients
Sarcopenia is an involuntary decline in skeletal muscle mass, strength, and function that normally proceed with aging but may develop faster under some chronic disease conditions. In this study, we compared th...
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Open AccessErratum to: Nephron development and extrarenal features in a child with congenital nephrotic syndrome caused by null LAMB2 mutations
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Open AccessNephron development and extrarenal features in a child with congenital nephrotic syndrome caused by null LAMB2 mutations
Congenital nephrotic syndrome (CNS) is a rare disorder caused by various structural and developmental defects of glomeruli. It occurs typically as an isolated kidney disorder but associates sometimes with othe...
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Decreased urinary excretion of the ectodomain form of megalin (A-megalin) in children with OCRL gene mutations
The oculocerebrorenal syndrome of Lowe gene (OCRL) is located on chromosome Xq25-26 and encodes an inositol polyphosphate-5-phosphatase (OCRL-1). Mutations in this gene cause Lowe syndrome (LS) or type 2 Dent dis...
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Article
Short-term outcome and quality of life in kidney transplant recipient with monoclonal gammopathy
Monoclonal gammopathy of undetermined significance (MGUS) is the common pre-malignant B cell disorders with a general prevalence of 3–5 % at age over 50. Because of the potential malignant transformation and i...
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Methicillin-resistant Staphylococcus aureus-related glomerulonephritis in a child
Methicillin-resistant Staphylococcus aureus-associated glomerulonephritis (MRSA-GN), a syndrome in which superantigens play an important role in the pathogenesis of the infection, has been well described in adult...
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Correction: Corrigendum: Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis
Nat. Genet. 42, 72–76 (2010); published online 20 December 2009; corrected after print 5 February 2010. In the version of this article initially published, Stephen J. Tonna was inadvertently omitted from the a...
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Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis
Martin Pollak and colleagues show that missense mutations in the diaphanous inhibitory domain of INF2 cause focal segmental glomerular sclerosis. INF2 encodes a member of the formin family of actin-regulating pro...
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NPHS2 mutations in sporadic steroid-resistant nephrotic syndrome in Japanese children
Podocin is an integral membrane protein encoded by NPHS2, which is mapped to 1q25–31 and is exclusively expressed in glomerular podocytes. NPHS2 mutations are responsible for autosomal recessive familial steroid-...
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A family of mammalian Na+-dependent L-ascorbic acid transporters
Vitamin C (L-ascorbic acid) is essential for many enzymatic reactions, in which it serves to maintain prosthetic metal ions in their reduced forms (for example, Fe2+, Cu+)1,2, and for scavenging free radicals in ...
