Amar Majmundar

Next-generation nephrology: part 2-mainstreaming genomics in nephrology, a global perspective. Pediatr Nephrol. 2025 Feb 28. View Next-generation nephrology: part 2-mainstreaming genomics in nephrology, a global perspective. Abstract

Next-generation nephrology: part 1-an aid for genetic and genomic testing in pediatric nephrology. Pediatr Nephrol. 2025 Feb 13. View Next-generation nephrology: part 1-an aid for genetic and genomic testing in pediatric nephrology. Abstract

Mesoscale landscaping of the TRIM protein family reveals a novel human condensatopathy. bioRxiv. 2025 Jan 02. View Mesoscale landscaping of the TRIM protein family reveals a novel human condensatopathy. Abstract

Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes. NPJ Genom Med. 2024 Dec 02; 9(1):60. View Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes. Abstract

Mechanisms of podocyte injury in genetic kidney disease. Pediatr Nephrol. 2025 May; 40(5):1523-1538. View Mechanisms of podocyte injury in genetic kidney disease. Abstract

Endothelial HIF-2a regulates murine pathological angiogenesis and revascularization processes. J Clin Invest. 2024 Apr 15; 134(8). View Endothelial HIF-2a regulates murine pathological angiogenesis and revascularization processes. Abstract

Expanding the spectrum of novel candidate genes using trio exome sequencing and identification of monogenic cause in 27.5% of 320 families with steroid-resistant nephrotic syndrome. Genes Dis. 2025 Mar; 12(2):101280. View Expanding the spectrum of novel candidate genes using trio exome sequencing and identification of monogenic cause in 27.5% of 320 families with steroid-resistant nephrotic syndrome. Abstract

Recessive variants in the intergenic NOS1AP-C1orf226 locus cause monogenic kidney disease responsive to anti-proteinuric treatment. medRxiv. 2024 Mar 21. View Recessive variants in the intergenic NOS1AP-C1orf226 locus cause monogenic kidney disease responsive to anti-proteinuric treatment. Abstract

Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs. J Am Soc Nephrol. 2023 02 01; 34(2):273-290. View Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs. Abstract

OXGR1 is a candidate disease gene for human calcium oxalate nephrolithiasis. Genet Med. 2023 03; 25(3):100351. View OXGR1 is a candidate disease gene for human calcium oxalate nephrolithiasis. Abstract

Activation of 2-oxoglutarate receptor 1 (OXGR1) by a-ketoglutarate (aKG) does not detectably stimulate Pendrin-mediated anion exchange in Xenopus oocytes. Physiol Rep. 2022 07; 10(14):e15362. View Activation of 2-oxoglutarate receptor 1 (OXGR1) by a-ketoglutarate (aKG) does not detectably stimulate Pendrin-mediated anion exchange in Xenopus oocytes. Abstract

A Novel Form of Familial Vasopressin Deficient Diabetes Insipidus Transmitted in an X-linked Recessive Manner. J Clin Endocrinol Metab. 2022 05 17; 107(6):e2513-e2522. View A Novel Form of Familial Vasopressin Deficient Diabetes Insipidus Transmitted in an X-linked Recessive Manner. Abstract

Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT. Genet Med. 2022 02; 24(2):307-318. View Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT. Abstract

Sequencing the CaSR locus in Pakistani stone formers reveals a novel loss-of-function variant atypically associated with nephrolithiasis. BMC Med Genomics. 2021 11 12; 14(1):266. View Sequencing the CaSR locus in Pakistani stone formers reveals a novel loss-of-function variant atypically associated with nephrolithiasis. Abstract

Cystin genetic variants cause autosomal recessive polycystic kidney disease associated with altered Myc expression. Sci Rep. 2021 09 14; 11(1):18274. View Cystin genetic variants cause autosomal recessive polycystic kidney disease associated with altered Myc expression. Abstract

Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome. J Am Soc Nephrol. 2021 03; 32(3):580-596. View Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome. Abstract

A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features. Genet Med. 2021 06; 23(6):1158-1162. View A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features. Abstract

De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis. Am J Hum Genet. 2021 02 04; 108(2):357-367. View De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis. Abstract

Mutations in transcription factor CP2-like 1 may cause a novel syndrome with distal renal tubulopathy in humans. Nephrol Dial Transplant. 2021 01 25; 36(2):237-246. View Mutations in transcription factor CP2-like 1 may cause a novel syndrome with distal renal tubulopathy in humans. Abstract

Recessive NOS1AP variants impair actin remodeling and cause glomerulopathy in humans and mice. Sci Adv. 2021 01; 7(1). View Recessive NOS1AP variants impair actin remodeling and cause glomerulopathy in humans and mice. Abstract

Generation of Monogenic Candidate Genes for Human Nephrotic Syndrome Using 3 Independent Approaches. Kidney Int Rep. 2021 Feb; 6(2):460-471. View Generation of Monogenic Candidate Genes for Human Nephrotic Syndrome Using 3 Independent Approaches. Abstract

DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation. Am J Hum Genet. 2020 12 03; 107(6):1113-1128. View DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation. Abstract

Recessive Mutations in SYNPO2 as a Candidate of Monogenic Nephrotic Syndrome. Kidney Int Rep. 2021 Feb; 6(2):472-483. View Recessive Mutations in SYNPO2 as a Candidate of Monogenic Nephrotic Syndrome. Abstract

Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations. Am J Hum Genet. 2020 10 01; 107(4):727-742. View Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations. Abstract

CAKUT and Autonomic Dysfunction Caused by Acetylcholine Receptor Mutations. Am J Hum Genet. 2019 12 05; 105(6):1286-1293. View CAKUT and Autonomic Dysfunction Caused by Acetylcholine Receptor Mutations. Abstract

Whole exome sequencing identified ATP6V1C2 as a novel candidate gene for recessive distal renal tubular acidosis. Kidney Int. 2020 03; 97(3):567-579. View Whole exome sequencing identified ATP6V1C2 as a novel candidate gene for recessive distal renal tubular acidosis. Abstract

Whole exome sequencing in childhood-onset lupus frequently detects single gene etiologies. Pediatr Rheumatol Online J. 2019 Jul 30; 17(1):52. View Whole exome sequencing in childhood-onset lupus frequently detects single gene etiologies. Abstract

Mutations in KIRREL1, a slit diaphragm component, cause steroid-resistant nephrotic syndrome. Kidney Int. 2019 10; 96(4):883-889. View Mutations in KIRREL1, a slit diaphragm component, cause steroid-resistant nephrotic syndrome. Abstract

COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans. Hum Genet. 2019 Oct; 138(10):1105-1115. View COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans. Abstract

Corticosteroid treatment exacerbates nephrotic syndrome in a zebrafish model of magi2a knockout. Kidney Int. 2019 05; 95(5):1079-1090. View Corticosteroid treatment exacerbates nephrotic syndrome in a zebrafish model of magi2a knockout. Abstract

Panel sequencing distinguishes monogenic forms of nephritis from nephrosis in children. Nephrol Dial Transplant. 2019 03 01; 34(3):474-485. View Panel sequencing distinguishes monogenic forms of nephritis from nephrosis in children. Abstract

Genetic variants in the LAMA5 gene in pediatric nephrotic syndrome. Nephrol Dial Transplant. 2019 03 01; 34(3):485-493. View Genetic variants in the LAMA5 gene in pediatric nephrotic syndrome. Abstract

Gene panel sequencing identifies a likely monogenic cause in 7% of 235 Pakistani families with nephrolithiasis. Hum Genet. 2019 Mar; 138(3):211-219. View Gene panel sequencing identifies a likely monogenic cause in 7% of 235 Pakistani families with nephrolithiasis. Abstract

Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients. J Am Soc Nephrol. 2019 02; 30(2):201-215. View Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients. Abstract

Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome. J Clin Invest. 2018 10 01; 128(10):4313-4328. View Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome. Abstract

Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract. J Am Soc Nephrol. 2018 09; 29(9):2348-2361. View Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract. Abstract

Mutations in WDR4 as a new cause of Galloway-Mowat syndrome. Am J Med Genet A. 2018 11; 176(11):2460-2465. View Mutations in WDR4 as a new cause of Galloway-Mowat syndrome. Abstract

GAPVD1 and ANKFY1 Mutations Implicate RAB5 Regulation in Nephrotic Syndrome. J Am Soc Nephrol. 2018 08; 29(8):2123-2138. View GAPVD1 and ANKFY1 Mutations Implicate RAB5 Regulation in Nephrotic Syndrome. Abstract

Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment. Nat Commun. 2018 05 17; 9(1):1960. View Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment. Abstract

Acute multi-sgRNA knockdown of KEOPS complex genes reproduces the microcephaly phenotype of the stable knockout zebrafish model. PLoS One. 2018; 13(1):e0191503. View Acute multi-sgRNA knockdown of KEOPS complex genes reproduces the microcephaly phenotype of the stable knockout zebrafish model. Abstract

Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome. Clin J Am Soc Nephrol. 2018 01 06; 13(1):53-62. View Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome. Abstract

Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis. Kidney Int. 2018 01; 93(1):204-213. View Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis. Abstract

HIF modulation of Wnt signaling regulates skeletal myogenesis in vivo. Development. 2015 Jul 15; 142(14):2405-12. View HIF modulation of Wnt signaling regulates skeletal myogenesis in vivo. Abstract

Endothelial HIF-2a regulates murine pathological angiogenesis and revascularization processes. J Clin Invest. 2012 Apr; 122(4):1427-43. View Endothelial HIF-2a regulates murine pathological angiogenesis and revascularization processes. Abstract

O(2) regulates skeletal muscle progenitor differentiation through phosphatidylinositol 3-kinase/AKT signaling. Mol Cell Biol. 2012 Jan; 32(1):36-49. View O(2) regulates skeletal muscle progenitor differentiation through phosphatidylinositol 3-kinase/AKT signaling. Abstract

Hypoxia-inducible factors and the response to hypoxic stress. Mol Cell. 2010 Oct 22; 40(2):294-309. View Hypoxia-inducible factors and the response to hypoxic stress. Abstract

Hemodynamic and metabolic diffuse optical monitoring in a mouse model of hindlimb ischemia. Biomed Opt Express. 2010 Oct 15; 1(4):1173-1187. View Hemodynamic and metabolic diffuse optical monitoring in a mouse model of hindlimb ischemia. Abstract

HIF2alpha inhibition promotes p53 pathway activity, tumor cell death, and radiation responses. Proc Natl Acad Sci U S A. 2009 Aug 25; 106(34):14391-6. View HIF2alpha inhibition promotes p53 pathway activity, tumor cell death, and radiation responses. Abstract

Epigenetic downregulation of the DNA repair gene MED1/MBD4 in colorectal and ovarian cancer. Cancer Biol Ther. 2009 Jan; 8(1):94-100. View Epigenetic downregulation of the DNA repair gene MED1/MBD4 in colorectal and ovarian cancer. Abstract

Combined millimeter wave and cyclophosphamide therapy of an experimental murine melanoma. Bioelectromagnetics. 2004 Oct; 25(7):516-23. View Combined millimeter wave and cyclophosphamide therapy of an experimental murine melanoma. Abstract