Saurabh S. Kulkarni
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View article: Patient-informed CRISPR Screen Identifies FLNB as a Novel Congenital Heart Disease and Ciliopathy Gene
Patient-informed CRISPR Screen Identifies FLNB as a Novel Congenital Heart Disease and Ciliopathy Gene Open
Heterotaxy (HTX) syndrome is a congenital disorder characterized by abnormal left-right organ placement, often leading to severe congenital heart defects (CHD). Despite advances in sequencing, many CHD/HTX-associated genes remain functiona…
View article: Integrative Functional Genomics Identifies ARHGAP10 in the 4q31.2 Locus as a Novel Congenital Heart Disease and Ciliopathy Gene
Integrative Functional Genomics Identifies ARHGAP10 in the 4q31.2 Locus as a Novel Congenital Heart Disease and Ciliopathy Gene Open
Congenital heart disease (CHD) remains a major cause of pediatric morbidity and mortality, yet its genetic underpinnings are not fully understood. Two studies independently identified rare deletions in ARHGAP10 (GAP10), a Rho GTPase-activa…
View article: Genomic Complexity of ccdc40 in Xenopus: Implications for CRISPR Targeting and Disease Modeling
Genomic Complexity of ccdc40 in Xenopus: Implications for CRISPR Targeting and Disease Modeling Open
Mutations in CCDC40 cause primary ciliary dyskinesia in humans. To evaluate the pathogenicity of variants in CCDC40, we examined the genomic structure of this gene in Xenopus tropicalis, a diploid frog suitable as a mo…
View article: Mechanisms of cilia regeneration in Xenopus multiciliated epithelium in vivo
Mechanisms of cilia regeneration in Xenopus multiciliated epithelium in vivo Open
View article: Multiciliated cells adapt the mechanochemical Piezo1-Erk1/2-Yap1 cell proliferation axis to fine-tune centriole number
Multiciliated cells adapt the mechanochemical Piezo1-Erk1/2-Yap1 cell proliferation axis to fine-tune centriole number Open
Multiciliated cells (MCCs) are specialized epithelial cells that undergo massive amplification of centrioles, constructing several motile cilia to propel fluid flow. The abundance of cilia is critical for efficient fluid flow, yet how MCCs…
View article: The Heterotaxy Gene <i>CCDC11</i> Is Important for Cytokinesis via <scp>RhoA</scp> Regulation
The Heterotaxy Gene <i>CCDC11</i> Is Important for Cytokinesis via <span>RhoA</span> Regulation Open
Mutations in CCDC11 ( cfap53 ) have been identified in multiple patients with heterotaxy (Htx), a disorder of left–right (LR) patterning of the internal organs. In Xenopus , depletion of Ccdc11 causes defects in LR patterning, recapitulati…
View article: Mechanisms of cilia regeneration in <i>Xenopus</i> multiciliated epithelium <i>in vivo</i>
Mechanisms of cilia regeneration in <i>Xenopus</i> multiciliated epithelium <i>in vivo</i> Open
SUMMARY Cilia regeneration is a physiological event, and while studied extensively in unicellular organisms, it remains poorly understood in vertebrates. In this study, using Xenopus multiciliated cells (MCCs) as a model, we demonstrate th…
View article: Mechanisms of Cilia Regeneration in <i>Xenopus</i> Multiciliated Epithelium <i>in vivo</i>
Mechanisms of Cilia Regeneration in <i>Xenopus</i> Multiciliated Epithelium <i>in vivo</i> Open
View article: Mechanical stretch scales centriole number to apical area via Piezo1 in multiciliated cells
Mechanical stretch scales centriole number to apical area via Piezo1 in multiciliated cells Open
How cells count and regulate organelle number is a fundamental question in cell biology. For example, most cells restrict centrioles to two in number and assemble one cilium; however, multiciliated cells (MCCs) synthesize hundreds of centr…
View article: Author response: Mechanical stretch scales centriole number to apical area via Piezo1 in multiciliated cells
Author response: Mechanical stretch scales centriole number to apical area via Piezo1 in multiciliated cells Open
Article Figures and data Abstract Introduction Results and discussion Materials and methods Data availability References Decision letter Author response Article and author information Metrics Abstract How cells count and regulate organelle…
View article: Corticosterone Is Essential for Survival Through Frog Metamorphosis
Corticosterone Is Essential for Survival Through Frog Metamorphosis Open
Thyroid hormone (TH) is required for frog metamorphosis, and corticosterone (CORT) increases TH signaling to accelerate metamorphic progression. However, a requirement for CORT in metamorphosis has been difficult to assess prior to the rec…
View article: WDR5 regulates left-right patterning via chromatin-dependent and -independent functions
WDR5 regulates left-right patterning via chromatin-dependent and -independent functions Open
Congenital heart disease (CHD) is a major cause of infant mortality and morbidity, yet the genetic causes and mechanisms remain opaque. In a patient with CHD and heterotaxy, a disorder of left-right (LR) patterning, a de novo mutation was …
View article: The Heterotaxy Gene <i>CCDC11</i> is Essential for Cytokinesis and Cell-Cell Adhesion via RhoA Regulation
The Heterotaxy Gene <i>CCDC11</i> is Essential for Cytokinesis and Cell-Cell Adhesion via RhoA Regulation Open
SUMMARY Mutations in CCDC11 have been identified in multiple patients with heterotaxy (Htx), a disorder of left-right (LR) patterning of the internal organs. In Xenopus , depletion of Ccdc11 causes defects in LR patterning, recapitulating …
View article: <i>RPSA</i>, a candidate gene for isolated congenital asplenia, is required for pre-rRNA processing and spleen formation in <i>Xenopus</i>
<i>RPSA</i>, a candidate gene for isolated congenital asplenia, is required for pre-rRNA processing and spleen formation in <i>Xenopus</i> Open
A growing number of tissue-specific inherited disorders are associated with impaired ribosome production, despite the universal requirement for ribosome function. Recently, mutations in RPSA, a protein component of the small ribosomal subu…
View article: RAPGEF5 Regulates Nuclear Translocation of β-Catenin
RAPGEF5 Regulates Nuclear Translocation of β-Catenin Open
Canonical Wnt signaling coordinates many critical aspects of embryonic development, while dysregulated Wnt signaling contributes to common diseases, including congenital malformations and cancer. The nuclear localization of β-catenin is th…
View article: Genetic accommodation via modified endocrine signalling explains phenotypic divergence among spadefoot toad species
Genetic accommodation via modified endocrine signalling explains phenotypic divergence among spadefoot toad species Open
View article: WDR5 stabilizes actin architecture to promote multiciliated cell formation
WDR5 stabilizes actin architecture to promote multiciliated cell formation Open
HIGHLIGHTS WDR5 has an H3K4 independent role in the formation of multiciliated cells. WDR5 controls apical cell expansion, basal body patterning, and ciliogenesis in multiciliated cells. WDR5 localizes near the ciliary base where it connec…
View article: Amphiesma stolatum (striped keelback): Habitat and reproduction
Amphiesma stolatum (striped keelback): Habitat and reproduction Open
Amphiesma stolatum (Natricinae) is a non-venomous\nAsiatic colubrid distributed widely from Pakistan,\neastward into Southern Asia, northward into south China\nand on various mainlands and islands across Southeast\nAsia. In India, the snak…
View article: Comparing techniques for measuring corticosterone in tadpoles
Comparing techniques for measuring corticosterone in tadpoles Open
Glucocorticoids play a key role in mediating stress responses in vertebrates. Corticosterone (CORT) is the main glucocorticoid produced in amphibians, birds, and reptiles, and regulates several metabolic functions. The most common methods …