Novel mutations in SPEF2 causing different defects between flagella and cilia bridge: the phenotypic link between MMAF and PCD

Bi-allelic Mutations in ARMC2 Lead to Severe Astheno-Teratozoospermia Due to Sperm Flagellum Malformations in Humans and Mice

(2019) Charles Coutton et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Proteome of the central apparatus of a ciliary axoneme

(2019) Lei Zhao et al.   JOURNAL OF CELL BIOLOGY

Homozygous mutations in SPEF2 induce multiple morphological abnormalities of the sperm flagella and male infertility

(2019) Chunyu Liu et al.   JOURNAL OF MEDICAL GENETICS

Biallelic mutations in Sperm flagellum 2 cause human multiple morphological abnormalities of the sperm flagella (MMAF) phenotype

(2019) Yanwei Sha et al.   CLINICAL GENETICS

Loss-of-function mutations in SPEF2 cause multiple morphological abnormalities of the sperm flagella (MMAF)

(2019) Wensheng Liu et al.   JOURNAL OF MEDICAL GENETICS

SPEF2- and HYDIN-mutant Cilia Lack the Central Pair Associated Protein SPEF2 Aiding PCD Diagnostics

(2019) Sandra Cindrić et al.   AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY

Biallelic mutations in CFAP65 lead to severe asthenoteratospermia due to acrosome hypoplasia and flagellum malformations

(2019) Weili Wang et al.   JOURNAL OF MEDICAL GENETICS

Identification of genetic variants in CFAP221 as a cause of primary ciliary dyskinesia

(2019) Ximena M. Bustamante-Marin et al.   JOURNAL OF HUMAN GENETICS

C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia

(2018) Mahmoud R. Fassad et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genetics of male infertility

(2018) Csilla Krausz et al.   Nature Reviews Urology

Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human

(2018) Charles Coutton et al.   Nature Communications

Cilia-related protein SPEF2 regulates osteoblast differentiation

(2018) Mari S. Lehti et al.   Scientific Reports

Loss-of-function mutations in TDRD7 lead to a rare novel syndrome combining congenital cataract and nonobstructive azoospermia in humans

(2017) Yue-Qiu Tan et al.   GENETICS IN MEDICINE

Mutation of serine/threonine protein kinase 36 (STK36 ) causes primary ciliary dyskinesia with a central pair defect

(2017) Christine Edelbusch et al.   HUMAN MUTATION

Outer dense fibers stabilize the axoneme to maintain sperm motility

(2017) Wenlong Zhao et al.   JOURNAL OF CELLULAR AND MOLECULAR MEDICINE

Primary Ciliary Dyskinesia: An Update on Clinical Aspects, Genetics, Diagnosis, and Future Treatment Strategies

(2017) Virginia Mirra et al.   Frontiers in Pediatrics

Mammalian axoneme central pair complex proteins: Broader roles revealed by gene knockout phenotypes

(2016) Maria E. Teves et al.   Cytoskeleton

European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia

(2016) Jane S. Lucas et al.   EUROPEAN RESPIRATORY JOURNAL

The axoneme: the propulsive engine of spermatozoa and cilia and associated ciliopathies leading to infertility

(2016) Richard W. Linck et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

The Central Apparatus of Cilia and Eukaryotic Flagella

(2016) Thomas D. Loreng et al.   Cold Spring Harbor Perspectives in Biology

Variation in DNAH1 may contribute to primary ciliary dyskinesia

(2015) Faiqa Imtiaz et al.   BMC Medical Genetics

Intraflagellar transport is essential for mammalian spermiogenesis but is absent in mature sperm

(2015) Jovenal T. San Agustin et al.   MOLECULAR BIOLOGY OF THE CELL

Diagnosis and management of primary ciliary dyskinesia

(2014) J. S. Lucas et al.   ARCHIVES OF DISEASE IN CHILDHOOD

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

One-Step Generation of Mice Carrying Mutations in Multiple Genes by CRISPR/Cas-Mediated Genome Engineering

(2013) Haoyi Wang et al.   CELL

Alternative splicing, promoter methylation, and functional SNPs of sperm flagella 2 gene in testis and mature spermatozoa of Holstein bulls

(2013) F Guo et al.   REPRODUCTION

Recessive HYDIN Mutations Cause Primary Ciliary Dyskinesia without Randomization of Left-Right Body Asymmetry

(2012) Heike Olbrich et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Loss of SPEF2 Function in Mice Results in Spermatogenesis Defects and Primary Ciliary Dyskinesia1

(2011) Anu Sironen et al.   BIOLOGY OF REPRODUCTION

CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs

(2010) Anne-Christine Merveille et al.   NATURE GENETICS

Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome

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

International estimates on infertility prevalence and treatment seeking: potential need and demand for medical care

(2009) S.J. Dyer   HUMAN REPRODUCTION