ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder

Alpha-kinase 1 is a cytosolic innate immune receptor for bacterial ADP-heptose

(2018) Ping Zhou et al.   NATURE

Alpha kinase 1 controls intestinal inflammation by suppressing the IL-12/Th1 axis

(2018) Grigory Ryzhakov et al.   Nature Communications

Alterations in the balance of tubulin glycylation and glutamylation in photoreceptors leads to retinal degeneration

(2017) Montserrat Bosch Grau et al.   JOURNAL OF CELL SCIENCE

Genes and molecular pathways underpinning ciliopathies

(2017) Jeremy F. Reiter et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing

(2016) Alan S. Ma et al.   HUMAN MUTATION

Loss of retinitis pigmentosa 2 (RP2) protein affects cone photoreceptor sensory cilium elongation in mice

(2015) Linjing Li et al.   Cytoskeleton

RPGR: Its role in photoreceptor physiology, human disease, and future therapies

(2015) Roly D. Megaw et al.   EXPERIMENTAL EYE RESEARCH

Centrosome function and assembly in animal cells

(2015) Paul T. Conduit et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Dysregulated TNFα promotes cytokine proteome profile increases and bilateral orofacial hypersensitivity

(2015) F. Ma et al.   NEUROSCIENCE

Phen-Gen: combining phenotype and genotype to analyze rare disorders

(2014) Asif Javed et al.   NATURE METHODS

Differential Gene Expression in Age-Related Macular Degeneration

(2014) Denise J. Morgan et al.   Cold Spring Harbor Perspectives in Medicine

Short-Rib Polydactyly and Jeune Syndromes Are Caused by Mutations in WDR60

(2013) Aideen M. McInerney-Leo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Cell cycle progression by the repression of primary cilia formation in proliferating cells

(2013) Hidemasa Goto et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

VAAST 2.0: Improved Variant Classification and Disease-Gene Identification Using a Conservation-Controlled Amino Acid Substitution Matrix

(2013) Hao Hu et al.   GENETIC EPIDEMIOLOGY

ALPK1 genetic regulation and risk in relation to gout

(2013) Albert Min-Shan Ko et al.   INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

Identification of chromosome 3q28 andALPK1as susceptibility loci for chronic kidney disease in Japanese individuals by a genome-wide association study

(2013) Yoshiji Yamada et al.   JOURNAL OF MEDICAL GENETICS

Targeted Ablation of Crb1 and Crb2 in Retinal Progenitor Cells Mimics Leber Congenital Amaurosis

(2013) Lucie P. Pellissier et al.   PLoS Genetics

An inherited disorder with splenomegaly, cytopenias, and vision loss

(2012) Srinivas K. Tantravahi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Ciliary transition zone (TZ) proteins RPGR and CEP290: role in photoreceptor cilia and degenerative diseases

(2012) Manisha Anand et al.   EXPERT OPINION ON THERAPEUTIC TARGETS

Mitogen-Activated Protein Kinase Pathways are Involved in the Upregulation of Calcitonin Gene-Related Peptide of Rat Trigeminal Ganglion After Organ Culture

(2012) Li Lei et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

Knockdown of Bardet-Biedl Syndrome Gene BBS9/PTHB1 Leads to Cilia Defects

(2012) Shobi Veleri et al.   PLoS One

Motor coordination deficits in Alpk1 mutant mice with the inserted piggyBac transposon

(2011) Muyun Chen et al.   BMC NEUROSCIENCE

The ciliopathy gene cc2d2a controls zebrafish photoreceptor outer segment development through a role in Rab8-dependent vesicle trafficking

(2011) Ruxandra Bachmann-Gagescu et al.   HUMAN MOLECULAR GENETICS

Lymphocyte α-kinase is a gout-susceptible gene involved in monosodium urate monohydrate-induced inflammatory responses

(2011) Shu-Jung Wang et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

TOPORS, implicated in retinal degeneration, is a cilia-centrosomal protein

(2010) Christina F. Chakarova et al.   HUMAN MOLECULAR GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Human Genome Sequencing Using Unchained Base Reads on Self-Assembling DNA Nanoarrays

(2009) R. Drmanac et al.   SCIENCE

Alleles in the HtrA Serine Peptidase 1 Gene Alter the Risk of Neovascular Age-Related Macular Degeneration

(2008) Margaret M. DeAngelis et al.   OPHTHALMOLOGY