Mansoureh Tabatabaeifar
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View article: iPSC line DHMCi010-A is derived from a hereditary nephrotic syndrome patient with an autosomal recessive NPHS2 mutation
iPSC line DHMCi010-A is derived from a hereditary nephrotic syndrome patient with an autosomal recessive NPHS2 mutation Open
Recessive mutations in the NPHS2 gene, encoding the podocyte membrane protein podocin, are the most common genetic cause of childhood-onset nephrotic syndrome. To generate induced pluripotent stem cells (iPSCs), peripheral blood mononuclea…
View article: iPSC line DHMCi019-A is generated from a patient with Hereditary nephrotic syndrome harboring compound heterozygous NPHS2 variants
iPSC line DHMCi019-A is generated from a patient with Hereditary nephrotic syndrome harboring compound heterozygous NPHS2 variants Open
Mutations in NPHS2, encoding the slit diaphragm protein podocin, are a common cause of steroid-resistant nephrotic syndrome in children. Over 120 mutations have been identified, leading to diverse subcellular podocin localization patterns.…
View article: GDF-15 and uEGF Independently Associate With CKD Progression in Children
GDF-15 and uEGF Independently Associate With CKD Progression in Children Open
View article: #2810 Exploring non-renal vasculature: therapeutic implications of proton pump inhibitor and anthelmintic treatment in PCK rat model
#2810 Exploring non-renal vasculature: therapeutic implications of proton pump inhibitor and anthelmintic treatment in PCK rat model Open
Background and Aims Cystic kidney diseases represent ciliopathies that can cause vascular damage through renal hypertension. Additionally, there is growing experimental evidence of endothelial cell abnormalities associated with ciliary pro…
View article: #1460 Targeting cyst progression: evaluation of anthelmintic and proton pump inhibitor in a rodent PKD model
#1460 Targeting cyst progression: evaluation of anthelmintic and proton pump inhibitor in a rodent PKD model Open
Background and Aims In polycystic kidney disease (PKD) cyst formation and growth leads to progressive kidney damage. Recognizing the need for effective cyst-inhibitory drugs, we previously performed high-content screening of approved, repu…
View article: #6189 PRECLINICAL VALIDATION OF REPURPOSABLE CANDIDATE DRUG COMPOUNDS FOR CYSTIC NEPHROPATHIES
#6189 PRECLINICAL VALIDATION OF REPURPOSABLE CANDIDATE DRUG COMPOUNDS FOR CYSTIC NEPHROPATHIES Open
Background and Aims Early-onset cystic kidney disease is a clinically and genetically heterogeneous and overlapping group of rare and often severe disorders with limited, mostly symptomatic treatment options. We developed and utilized inhe…
View article: Oral Coenzyme Q10 supplementation leads to better preservation of kidney function in steroid-resistant nephrotic syndrome due to primary Coenzyme Q10 deficiency
Oral Coenzyme Q10 supplementation leads to better preservation of kidney function in steroid-resistant nephrotic syndrome due to primary Coenzyme Q10 deficiency Open
View article: POS-413 GENERATION OF KIDNEY ORGANOIDS AS A PATIENT-SPECIFIC DISEASE MODEL FOR ARPKD USING INDUCED PLURIPOTENT STEM CELLS
POS-413 GENERATION OF KIDNEY ORGANOIDS AS A PATIENT-SPECIFIC DISEASE MODEL FOR ARPKD USING INDUCED PLURIPOTENT STEM CELLS Open
Autosomal recessive polycystic kidney disease (ARPKD) represents one of the most severe kidney disorders in children. The disease is caused by mutations in the PKHD1 gene which encodes for the ciliary protein fibrocystin. It is characteriz…
View article: Generation of an induced pluripotent stem cell line (DHMCi007-A) from a patient with autosomal recessive polycystic kidney disease (ARPKD) carrying a homozygous missense mutation in the fibrocystin-encoding PKHD1 gene
Generation of an induced pluripotent stem cell line (DHMCi007-A) from a patient with autosomal recessive polycystic kidney disease (ARPKD) carrying a homozygous missense mutation in the fibrocystin-encoding PKHD1 gene Open
View article: Generation of an induced pluripotent stem cell line (DHMCi006-A) from a patient with autosomal recessive polycystic kidney disease (ARPKD) carrying a compound heterozygous missense mutation in the fibrocystin encoding PKHD1 gene
Generation of an induced pluripotent stem cell line (DHMCi006-A) from a patient with autosomal recessive polycystic kidney disease (ARPKD) carrying a compound heterozygous missense mutation in the fibrocystin encoding PKHD1 gene Open
Mutations in the PKHD1 gene, encoding for the ciliary protein fibrocystin, play a major role in the cystogenesis in autosomal recessive polycystic kidney disease (ARPKD), a severe pediatric kidney disorder. Peripheral blood mononuclear cel…
View article: Molecular Study of Childhood Steroid-Resistant Nephrotic Syndrome: A Hospital-Based Study
Molecular Study of Childhood Steroid-Resistant Nephrotic Syndrome: A Hospital-Based Study Open
Steroid-resistant nephrotic syndrome (SRNS) patients with genetic mutations most commonly have histology of focal segmental glomerulosclerosis (FSGS) and do not respond to immunosuppressive drugs. We report the molecular screening results …
View article: An inducible mouse model of podocin-mutation-related nephrotic syndrome
An inducible mouse model of podocin-mutation-related nephrotic syndrome Open
Mutations in the NPHS2 gene, encoding podocin, cause hereditary nephrotic syndrome. The most common podocin mutation, R138Q, is associated with early disease onset and rapid progression to end-stage renal disease. Knock-in mice carrying a …