Nucleoporin NUP205 plays a critical role in cilia and congenital disease

Differential turnover of Nup188 controls its levels at centrosomes and role in centriole duplication

(2020) Nidhi Vishnoi et al.   JOURNAL OF CELL BIOLOGY

Biallelic Variants in the Nuclear Pore Complex Protein NUP93 Are Associated with Non-progressive Congenital Ataxia

(2019) Ginevra Zanni et al.   CEREBELLUM

Structure and Assembly of the Nuclear Pore Complex

(2019) Bernhard Hampoelz et al.   Annual Review of Biophysics

Roles of Primary Cilia in the Developing Brain

(2019) Sang Min Park et al.   Frontiers in Cellular Neuroscience

Genes and mechanisms of heterotaxy: patients drive the search

(2019) Emily Sempou et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

The photoreceptor cilium and its diseases

(2019) Ruxandra Bachmann-Gagescu et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Cilia, mitochondria, and cardiac development

(2019) Bill Chaudhry et al.   JOURNAL OF CLINICAL INVESTIGATION

Bi-Allelic Mutations in NUP205 and NUP210 Are Associated With Abnormal Cardiac Left-Right Patterning

(2019) Weicheng Chen et al.   Circulation-Genomic and Precision Medicine

Renal ciliopathies

(2019) Laura A Devlin et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

NPHP proteins are binding partners of nucleoporins at the base of the primary cilium

(2019) T. Lynne Blasius et al.   PLoS One

Xenopus: Driving the Discovery of Novel Genes in Patient Disease and Their Underlying Pathological Mechanisms Relevant for Organogenesis

(2019) Woong Y. Hwang et al.   Frontiers in Physiology

WDR5 Stabilizes Actin Architecture to Promote Multiciliated Cell Formation

(2018) Saurabh S. Kulkarni et al.   DEVELOPMENTAL CELL

Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome

(2018) Daniela A. Braun et al.   JOURNAL OF CLINICAL INVESTIGATION

Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands

(2017) Sheng Chih Jin et al.   NATURE GENETICS

Congenital Heart Disease Genetics Uncovers Context-Dependent Organization and Function of Nucleoporins at Cilia

(2016) Florencia del Viso et al.   DEVELOPMENTAL CELL

Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome

(2016) Daniela A Braun et al.   NATURE GENETICS

The nuclear pore complex: understanding its function through structural insight

(2016) Martin Beck et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Molecular architecture of the inner ring scaffold of the human nuclear pore complex

(2016) J. Kosinski et al.   SCIENCE

Ciliopathies

(2016) Daniela A. Braun et al.   Cold Spring Harbor Perspectives in Biology

Biallelic Mutations in Nuclear Pore Complex Subunit NUP107 Cause Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome

(2015) Noriko Miyake et al.   AMERICAN JOURNAL OF HUMAN GENETICS

CRISPR/Cas9: An inexpensive, efficient loss of function tool to screen human disease genes in Xenopus

(2015) Dipankan Bhattacharya et al.   DEVELOPMENTAL BIOLOGY

The polarity protein Inturned links NPHP4 to Daam1 to control the subapical actin network in multiciliated cells

(2015) Takayuki Yasunaga et al.   JOURNAL OF CELL BIOLOGY

ScaleS: an optical clearing palette for biological imaging

(2015) Hiroshi Hama et al.   NATURE NEUROSCIENCE

De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies

(2015) J. Homsy et al.   SCIENCE

Components and regulation of nuclear transport processes

(2014) Bastien Cautain et al.   FEBS Journal

Identification of Long-Lived Proteins Reveals Exceptional Stability of Essential Cellular Structures

(2013) Brandon H. Toyama et al.   CELL

The heterotaxy gene GALNT11 glycosylates Notch to orchestrate cilia type and laterality

(2013) Marko T. Boskovski et al.   NATURE

A size-exclusion permeability barrier and nucleoporins characterize a ciliary pore complex that regulates transport into cilia

(2012) Hooi Lynn Kee et al.   NATURE CELL BIOLOGY

Fiji: an open-source platform for biological-image analysis

(2012) Johannes Schindelin et al.   NATURE METHODS

Extremely Long-Lived Nuclear Pore Proteins in the Rat Brain

(2012) J. N. Savas et al.   SCIENCE

Mapping the NPHP-JBTS-MKS Protein Network Reveals Ciliopathy Disease Genes and Pathways

(2011) Liyun Sang et al.   CELL

Insight into Structure and Assembly of the Nuclear Pore Complex by Utilizing the Genome of a Eukaryotic Thermophile

(2011) Stefan Amlacher et al.   CELL

Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning

(2011) K. A. Fakhro et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Nodal Inhibitor Coco Is a Critical Target of Leftward Flow in Xenopus

(2010) Axel Schweickert et al.   CURRENT BIOLOGY

The nucleoporin Nup188 controls passage of membrane proteins across the nuclear pore complex

(2010) Gandhi Theerthagiri et al.   JOURNAL OF CELL BIOLOGY

Age-Dependent Deterioration of Nuclear Pore Complexes Causes a Loss of Nuclear Integrity in Postmitotic Cells

(2009) Maximiliano A. D'Angelo et al.   CELL

Flow on the right side of the gastrocoel roof plate is dispensable for symmetry breakage in the frog Xenopus laevis

(2009) Philipp Vick et al.   DEVELOPMENTAL BIOLOGY