Brandon Lane

Journal Article J Am Soc Nephrol · February 1, 2025 KEY POINTS: We conducted a clinical, genetic, and pathological analysis on 64 cases from 39 families with TRPC6-associated podocytopathy (TRPC6-AP). Analysis of 37,542 individuals excluded a major contribution of loss-of-function variants to TRPC6-AP, legi ... Full text Link to item Cite

Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease.

Journal Article Nat Commun · November 30, 2023 African Americans have a significantly higher risk of developing chronic kidney disease, especially focal segmental glomerulosclerosis -, than European Americans. Two coding variants (G1 and G2) in the APOL1 gene play a major role in this disparity. While ... Full text Link to item Cite

Inaxaplin for the treatment of APOL1-associated kidney disease.

Journal Article Nat Rev Nephrol · August 2023 Chronic kidney disease (CKD) is highly prevalent World-Wide and it is an important cause of morbidity and mortality. In 2010, variants in apolipoprotein type 1 (APOL1) gene was identified as a major risk factor for higher prevalence of CKD in individuals o ... Full text Link to item Cite

Hiding in plain sight: genetics of childhood steroid-resistant nephrotic syndrome in Sub-Saharan Africa.

Journal Article Pediatr Nephrol · July 2023 Steroid-resistant nephrotic syndrome (SRNS) is the most severe form of childhood nephrotic syndrome with an increased risk of progression to chronic kidney disease stage 5. Research endeavors to date have identified more than 80 genes that are associated w ... Full text Link to item Cite

The case for treatment of monogenic SRNS with calcineurin inhibitors.

Journal Article Kidney Int · May 2023 Currently, no evidence-based guidelines exist for treatment of children with monogenic steroid-resistant nephrotic syndrome. A retrospective study on 141 patients from Malakasioti et al. revealed that 27.6% responded to calcineurin inhibitor (CNI) treatmen ... Full text Link to item Cite

Genetic risk variants for childhood nephrotic syndrome and corticosteroid response.

Journal Article Front Pediatr · 2023 INTRODUCTION: The etiology of most cases of nephrotic syndrome (NS) remains unknown, therefore patients are phenotypically categorized based on response to corticosteroid therapy as steroid sensitive NS (SSNS), or steroid resistant NS (SRNS). Genetic risk ... Full text Link to item Cite

Steroid-sensitive nephrotic syndrome candidate gene CLVS1 regulates podocyte oxidative stress and endocytosis.

Journal Article JCI Insight · January 25, 2022 We performed next-generation sequencing in patients with familial steroid-sensitive nephrotic syndrome (SSNS) and identified a homozygous segregating variant (p.H310Y) in the gene encoding clavesin-1 (CLVS1) in a consanguineous family with 3 affected indiv ... Full text Link to item Cite

Case Report: Unusual Aggregation of Different Glomerulopathies in a Family Resolved by Genetic Testing and Reverse Phenotyping.

Journal Article Frontiers in pediatrics · January 2022 Glomerular diseases (GDs) are a major cause of chronic kidney disease in children. The conventional approach to diagnosis of GDs includes clinical evaluation and, in most cases, kidney biopsy to make a definitive diagnosis. However, in many cases, clinical ... Full text Cite

Collapsing Focal Segmental Glomerulosclerosis in Siblings With Compound Heterozygous Variants in NUP93 Expand the Spectrum of Kidney Phenotypes Associated With Nucleoporin Gene Mutations.

Journal Article Front Pediatr · 2022 BACKGROUND: Focal segmental glomerulosclerosis (FSGS) is a major cause of end stage kidney disease, with the collapsing form having the worst prognosis. Study of families with hereditary FSGS has provided insight into disease mechanisms. METHODS: In this r ... Full text Link to item Cite

A Rare Autosomal Dominant Variant in Regulator of Calcineurin Type 1 (RCAN1) Gene Confers Enhanced Calcineurin Activity and May Cause FSGS.

Journal Article J Am Soc Nephrol · July 2021 BACKGROUND: Podocyte dysfunction is the main pathologic mechanism driving the development of FSGS and other morphologic types of steroid-resistant nephrotic syndrome (SRNS). Despite significant progress, the genetic causes of most cases of SRNS have yet to ... Full text Link to item Cite

Common risk variants in NPHS1 and TNFSF15 are associated with childhood steroid-sensitive nephrotic syndrome.

Journal Article Kidney Int · November 2020 To understand the genetics of steroid-sensitive nephrotic syndrome (SSNS), we conducted a genome-wide association study in 987 childhood SSNS patients and 3,206 healthy controls with Japanese ancestry. Beyond known associations in the HLA-DR/DQ region, com ... Full text Link to item Cite

Genetics of Childhood Steroid Sensitive Nephrotic Syndrome: An Update.

Journal Article Front Pediatr · 2019 Advances in genome science in the last 20 years have led to the discovery of over 50 single gene causes and genetic risk loci for steroid resistant nephrotic syndrome (SRNS). Despite these advances, the genetic architecture of childhood steroid sensitive n ... Full text Open Access Link to item Cite

The Human FSGS-Causing ANLN R431C Mutation Induces Dysregulated PI3K/AKT/mTOR/Rac1 Signaling in Podocytes.

Journal Article J Am Soc Nephrol · August 2018 BACKGROUND: We previously reported that mutations in the anillin (ANLN) gene cause familial forms of FSGS. ANLN is an F-actin binding protein that modulates podocyte cell motility and interacts with the phosphoinositide 3-kinase (PI3K) pathway through the ... Full text Link to item Cite

Genetic Testing for Steroid-Resistant-Nephrotic Syndrome in an Outbred Population.

Journal Article Front Pediatr · 2018 Background: Steroid-resistant nephrotic syndrome (SRNS) is a leading cause of end-stage kidney disease in children and young adults. Despite advances in genomic science that have led to the discovery of >50 monogenic causes of SRNS, there are no clear guid ... Full text Link to item Cite

Dysregulation of WTI (-KTS) is Associated with the Kidney-Specific Effects of the LMX1B R246Q Mutation.

Journal Article Sci Rep · January 6, 2017 Mutations in the LIM homeobox transcription factor 1-beta (LMX1B) are a cause of nail patellar syndrome, a condition characterized by skeletal changes, glaucoma and focal segmental glomerulosclerosis. Recently, a missense mutation (R246Q) in LMX1B was repo ... Full text Link to item Cite

Otx but not Mitf transcription factors are required for zebrafish retinal pigment epithelium development.

Journal Article PLoS One · 2012 Otx and Mitf transcription factors have been implicated in the development of the retinal pigmented epithelium (RPE), but the relationship between these factors and their specific roles in the development of the RPE have not been fully defined. The role of ... Full text Link to item Cite

Design, synthesis, and anaplastic lymphoma kinase (ALK) inhibitory activity for a novel series of 2,4,8,22-tetraazatetracyclo[14.3.1.1³,⁷.1⁹,¹³]docosa-1(20),3(22),4,6,9(21),10,12,16,18-nonaene macrocycles.

Journal Article Journal of medicinal chemistry · January 2012 A novel set of 2,4,8,22-tetraazatetracyclo[14.3.1.1(3,7).1(9,13)]docosa-1(20),3(22),4,6,9(21),10,12,16,18-nonaene macrocycles were prepared as potential anaplastic lymphoma kinase (ALK) inhibitors, designed to rigidly lock an energy-minimized bioactive con ... Full text Cite

Embryonic expression of zebrafish MiT family genes tfe3b, tfeb, and tfec.

Journal Article Dev Dyn · November 2011 The MiT family comprises four genes in mammals: Mitf, Tfe3, Tfeb, and Tfec, which encode transcription factors of the basic-helix-loop-helix/leucine zipper class. Mitf is well-known for its essential role in the development of melanocytes, however the func ... Full text Link to item Cite