Homozygous missense mutation L673P in adenylate kinase 7 (AK7) leads to primary male infertility and multiple morphological anomalies of the flagella but not to primary ciliary dyskinesia

DNAH1 gene mutations and their potential association with dysplasia of the sperm fibrous sheath and infertility in the Han Chinese population

(2017) Yanwei Sha et al.   FERTILITY AND STERILITY

Mutations in DNAJB13 , Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility

(2016) Elma El Khouri et al.   AMERICAN JOURNAL OF HUMAN GENETICS

HomozygousDNAH1frameshift mutation causes multiple morphological anomalies of the sperm flagella in Chinese

(2016) X. Wang et al.   CLINICAL GENETICS

Primary Ciliary Dyskinesia

(2016) Michael R. Knowles et al.   CLINICS IN CHEST MEDICINE

Whole-exome sequencing of familial cases of multiple morphological abnormalities of the sperm flagella (MMAF) reveals newDNAH1mutations

(2016) Amir Amiri-Yekta et al.   HUMAN REPRODUCTION

Motile and non-motile cilia in human pathology: from function to phenotypes

(2016) Hannah M Mitchison et al.   JOURNAL OF PATHOLOGY

RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes

(2015) Ludovic Jeanson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Shared and Distinct Mechanisms of Compartmentalized and Cytosolic Ciliogenesis

(2015) Tomer Avidor-Reiss et al.   CURRENT BIOLOGY

Evolutionary Patterns in Coiled-Coils

(2015) Jaroslaw Surkont et al.   Genome Biology and Evolution

Another look at human sperm morphology

(2015) J. Auger et al.   HUMAN REPRODUCTION

The CSC proteins FAP61 and FAP251 build the basal substructures of radial spoke 3 in cilia

(2015) Paulina Urbanska et al.   MOLECULAR BIOLOGY OF THE CELL

Composition of Overlapping Protein-Protein and Protein-Ligand Interfaces

(2015) Ruzianisra Mohamed et al.   PLoS One

Mutations inRSPH1Cause Primary Ciliary Dyskinesia with a Unique Clinical and Ciliary Phenotype

(2014) Michael R. Knowles et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Nasal nitric oxide screening for primary ciliary dyskinesia: systematic review and meta-analysis

(2014) Samuel A. Collins et al.   EUROPEAN RESPIRATORY JOURNAL

The many isoforms of human adenylate kinases

(2014) Christakis Panayiotou et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

Recent advances in primary ciliary dyskinesia genetics

(2014) Małgorzata Kurkowiak et al.   JOURNAL OF MEDICAL GENETICS

A comprehensive assessment of RNA-seq accuracy, reproducibility and information content by the Sequencing Quality Control Consortium

(2014)   NATURE BIOTECHNOLOGY

Structural implications of Dpy30 oligomerization for MLL/SET1 COMPASS H3K4 trimethylation

(2014) Hongmei Zhang et al.   Protein & Cell

Loss-of-Function Mutations in RSPH1 Cause Primary Ciliary Dyskinesia with Central-Complex and Radial-Spoke Defects

(2013) Esther Kott et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in DNAH1, which Encodes an Inner Arm Heavy Chain Dynein, Lead to Male Infertility from Multiple Morphological Abnormalities of the Sperm Flagella

(2013) Mariem Ben Khelifa et al.   AMERICAN JOURNAL OF HUMAN GENETICS

New Adenylate Kinase 7 (AK7) Mutation in Primary Ciliary Dyskinesia

(2012) Manuel Mata et al.   American Journal of Rhinology & Allergy

Residual body removal during spermatogenesis in C. elegans requires genes that mediate cell corpse clearance

(2012) J. Huang et al.   DEVELOPMENT

A flagellar A-kinase anchoring protein with two amphipathic helices forms a structural scaffold in the radial spoke complex

(2012) Priyanka Sivadas et al.   JOURNAL OF CELL BIOLOGY

The DPY-30 Domain and Its Flanking Sequence Mediate the Assembly and Modulation of Flagellar Radial Spoke Complexes

(2012) R. Gopal et al.   MOLECULAR AND CELLULAR BIOLOGY

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

(2012)   NATURE

Quantitative analysis of ciliary beating in primary ciliary dyskinesia: a pilot study

(2012) Jean-François Papon et al.   Orphanet Journal of Rare Diseases

Exploring the Transcriptome of Ciliated Cells Using In Silico Dissection of Human Tissues

(2012) Alexander E. Ivliev et al.   PLoS One

Role for Dpy-30 in ES Cell-Fate Specification by Regulation of H3K4 Methylation within Bivalent Domains

(2011) Hao Jiang et al.   CELL

Ciliogenesis: building the cell's antenna

(2011) Hiroaki Ishikawa et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Sperm proteasome and fertilization

(2011) Peter Sutovsky   REPRODUCTION

Role of Adenylate Kinase Type 7 Expression on Cilia Motility: Possible Link in Primary Ciliary Dyskinesia

(2010) Javier Milara et al.   American Journal of Rhinology & Allergy

Human RING finger protein ZNF645 is a novel testis-specific E3 ubiquitin ligase

(2010) Yun-Qiang Liu et al.   ASIAN JOURNAL OF ANDROLOGY

Interaction between CFTR and prestin (SLC26A5)

(2010) Kazuaki Homma et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES

Networking with AKAPs: Context-dependent Regulation of Anchored Enzymes

(2010) E. J. Welch et al.   MOLECULAR INTERVENTIONS

Mutations in Radial Spoke Head Protein Genes RSPH9 and RSPH4A Cause Primary Ciliary Dyskinesia with Central-Microtubular-Pair Abnormalities

(2009) Victoria H. Castleman et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome

(2009) Margaret W Leigh et al.   GENETICS IN MEDICINE

World Health Organization reference values for human semen characteristics*‡

(2009) Trevor G. Cooper et al.   HUMAN REPRODUCTION UPDATE

Adenylate Kinase and AMP Signaling Networks: Metabolic Monitoring, Signal Communication and Body Energy Sensing

(2009) Petras Dzeja et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

A Conserved Interaction between the SDI Domain of Bre2 and the Dpy-30 Domain of Sdc1 Is Required for Histone Methylation and Gene Expression

(2009) Paul F. South et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A role of histone H3 lysine 4 methyltransferase components in endosomal trafficking

(2009) Zhuojin Xu et al.   JOURNAL OF CELL BIOLOGY

The sperm proteasome during sperm capacitation and fertilization

(2009) Shawn Zimmerman et al.   JOURNAL OF REPRODUCTIVE IMMUNOLOGY

Mutation of Murine Adenylate Kinase 7 Underlies a Primary Ciliary Dyskinesia Phenotype

(2008) Angeles Fernandez-Gonzalez et al.   AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY