Amjad Horani

A protein complex in the extreme distal tip of vertebrate motilecilia controls their organization, length, and function

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.

Comparative Single-Cell Transcriptomics Uncovers Shared and Distinct Molecular Signatures in Cystic Fibrosis and Primary Ciliary Dyskinesia

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

Machine Learning Analysis of Cilia-Driven Particle Transport Distinguishes Primary Ciliary Dyskinesia Cilia from Normal Cilia

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

Whole-Genome Sequencing Reveals Individual and Cohort Level Insights into Chromosome 9p Syndromes

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.

A stem cell-based platform for functional analysis of genetic variants in lung disease

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.

AggreBots: configuring CiliaBots through guided, modular tissue aggregation

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.

Loss of an extensive ciliary connectome induces proteostasis and cell fate switching in a severe motile ciliopathy

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

Cilia dysfunction in the lateral ventricles after neonatal intraventricular hemorrhage does not lead to functional changes in cilia-based CSF flow networks

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

TUBB4B variants specifically impact ciliary function, causing a ciliopathic spectrum

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

Derivation of Airway Basal Stem Cells from Human Pluripotent Stem Cells

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.

Mutation of CFAP57 causes primary ciliary dyskinesia by disrupting theasymmetric targeting of a subset of ciliary inner dynein arms

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

A phase separated organelle at the root of motile ciliopathy

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