Amjad Horani

The paper identifies two proteins, Ccdc78 and Ccdc33, at the distal tip of vertebrate motile cilia, showing they are essential for cilia organization, length regulation, and function.

This study compares single-cell transcriptomes of Cystic Fibrosis and Primary Ciliary Dyskinesia to identify distinct molecular signatures and pathways.

The paper uses machine learning to analyze cilia-driven particle transport and distinguishes PCD cilia from normal cilia with high accuracy.

This study uses whole-genome sequencing to analyze 9p deletion and duplication syndromes, identifying key genes and structural variants, and introduces a machine learning model for syndrome prediction.

This study develops an iPSC-based platform to functionally analyze genetic variants in lung disease, demonstrating its application in diagnosing a variant of uncertain significance in primary ciliary dyskinesia.

The paper introduces AggreBots, a platform for creating designer motility patterns in multicellular tissues by spatially controlling the aggregation of epithelial spheroids, achieving greater motility than traditional CiliaBots.

The paper identifies cellular defects beyond motility loss in ciliopathies caused by CCDC39/CCDC40 variants, showing proteostasis disruption and cell fate switching.

This study shows IVH reduces ciliated ependymal cells but does not disrupt cilia function or CSF flow networks in the lateral ventricles.

This paper describes a U-ExM protocol for analyzing subcellular structures in mouse and human kidney tissues with high detail using conventional microscopy.

The paper identifies TUBB4B mutations causing distinct ciliopathic diseases by affecting microtubule dynamics and cilia formation in humans and mice.

This paper reports the derivation of airway basal stem cells from human iPSCs, demonstrating their ability to self-renew and differentiate into airway epithelial cell types, and model lung diseases.

This study identifies mutations in CFAP57 as a cause of primary ciliary dyskinesia by showing they disrupt asymmetric inner dynein arm assembly in cilia.

The paper identifies phase-separated organelles called Dynein Assembly Particles in ciliated cells and links their dysfunction to a human genetic disease.