Knockout mouse models of sperm flagellum anomalies (Q36431990)

14 August 2017

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title

Knockout mouse models of sperm flagellum anomalies (English)

1 reference

14 August 2017

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Denise Escalier

1

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14 August 2017

24 March 2006

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Human Reproduction Update

14 August 2017

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14 August 2017

12

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14 August 2017

4

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14 August 2017

449-461

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Lack of dynein arms in immotile human spermatozoa

14 August 2017

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Loss of HR6B ubiquitin-conjugating activity results in damaged synaptonemal complex structure and increased crossing-over frequency during the male meiotic prophase

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Human dynein and sperm pathology

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

IFT20 links kinesin II with a mammalian intraflagellar transport complex that is conserved in motile flagella and sensory cilia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Lifting the lid on Pandora's box: the Bardet-Biedl syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Abnormal Spermiogenesis in Quaking, a Myelin-Deficient Mutant Mouse1

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Modelling human sperm-egg interactions in vitro: signal transduction pathways regulating the acrosome reaction.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Defects in nuclear and cytoskeletal morphology and mitochondrial localization in spermatozoa of mice lacking nectin-2, a component of cell-cell adherens junctions

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

A-kinase anchoring protein 4 binding proteins in the fibrous sheath of the sperm flagellum

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Selenoprotein P: an extracellular protein with unique physical characteristics and a role in selenium homeostasis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Primary ciliary dyskinesia: a review

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

All three isoforms of the voltage-dependent anion channel (VDAC1, VDAC2, and VDAC3) are present in mitochondria from bovine, rabbit, and rat brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Understanding the genes involved in spermatogenesis: a progress report.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

The Parkin co-regulated gene product, PACRG, is an evolutionarily conserved axonemal protein that functions in outer-doublet microtubule morphogenesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Developmentally regulated expression during gametogenesis of the murine gene meg1 suggests a role in meiosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Genetic dissection of the central pair microtubules of the flagella of Chlamydomonas reinhardtii

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Fibrous sheath of mammalian spermatozoa

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Impact of genetic engineering on the understanding of spermatogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

New insights into the assembly of the periaxonemal structures in mammalian spermatozoa

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Spermatid nuclear and sperm periaxonemal anomalies in the mouse Ube2b null mutant.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Purkinje cell degeneration (pcd) phenotypes caused by mutations in the axotomy-induced gene, Nna1

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Genotypically defined lissencephalies show distinct pathologies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Structure-function studies of DNA polymerase lambda.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

DNA polymerase lambda (Pol lambda), a novel eukaryotic DNA polymerase with a potential role in meiosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Parkin-deficient mice exhibit nigrostriatal deficits but not loss of dopaminergic neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Speriolin is a novel spermatogenic cell-specific centrosomal protein associated with the seventh WD motif of Cdc20

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Hydrocephalus and primary ciliary dyskinesia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Knockout mouse model and gametogenic failure

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Nudel contributes to microtubule anchoring at the mother centriole and is involved in both dynein-dependent and -independent centrosomal protein assembly

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Intraflagellar transport is required in Drosophila to differentiate sensory cilia but not sperm.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Isoform-specific interaction of golgin-160 with the Golgi-associated protein PIST

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Deletion of selenoprotein P alters distribution of selenium in the mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Voltage-dependent anion-selective channels VDAC2 and VDAC3 are abundant proteins in bovine outer dense fibers, a cytoskeletal component of the sperm flagellum

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Graded reduction of Pafah1b1 (Lis1) activity results in neuronal migration defects and early embryonic lethality

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Brain acetylhydrolase that inactivates platelet-activating factor is a G-protein-like trimer

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Loss of function of axonemal dynein Mdnah5 causes primary ciliary dyskinesia and hydrocephalus

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Molecular cloning of haploid germ cell-specific tektin cDNA and analysis of the protein in mouse testis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Cortical organization by the septin cytoskeleton is essential for structural and mechanical integrity of mammalian spermatozoa.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Molecular Architecture of the Sperm Flagella: Molecules for Motility and Signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Parkin gene inactivation alters behaviour and dopamine neurotransmission in the mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Failure to assemble the peri-nuclear structures in GOPC deficient spermatids as found in round-headed spermatozoa.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

The oligogenic properties of Bardet-Biedl syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Exploring the molecular basis of Bardet-Biedl syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Intramanchette transport (IMT): managing the making of the spermatid head, centrosome, and tail

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

The Sept4 septin locus is required for sperm terminal differentiation in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Hydrocephalus, situs inversus, chronic sinusitis, and male infertility in DNA polymerase lambda-deficient mice: possible implication for the pathogenesis of immotile cilia syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Novel roles for the flagellum in cell morphogenesis and cytokinesis of trypanosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Targeted disruption of intracellular type I platelet activating factor-acetylhydrolase catalytic subunits causes severe impairment in spermatogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Neuralized: regulating notch by putting away delta.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

The spatial and temporal expression of Tekt1, a mouse tektin C homologue, during spermatogenesis suggest that it is involved in the development of the sperm tail basal body and axoneme

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Association of sperm protein 17 with A-kinase anchoring protein 3 in flagella

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

It's a double knock-out! The quaking mouse is a spontaneous deletion of parkin and parkin co-regulated gene (PACRG).

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Deletion of the Parkin coregulated gene causes male sterility in the quaking(viable) mouse mutant

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Flagellar length control system: testing a simple model based on intraflagellar transport and turnover

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Genetic dissection of mammalian fertility pathways

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Glyceraldehyde 3-phosphate dehydrogenase-S, a sperm-specific glycolytic enzyme, is required for sperm motility and male fertility

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Targeted disruption of the Akap4 gene causes defects in sperm flagellum and motility.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

A-kinase anchor proteins in endocrine systems and reproduction

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Candidate gene associated with a mutation causing recessive polycystic kidney disease in mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Purkinje cell degeneration, a new neurological mutation in the mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Modifier genes in mice and humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Asthenozoospermia in mice with targeted deletion of the sperm mitochondrion-associated cysteine-rich protein (Smcp) gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Phospholipid hydroperoxide glutathione peroxidase: expression pattern during testicular development in mouse and evolutionary conservation in spermatozoa

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Inactivation of a testis-specific Lis1 transcript in mice prevents spermatid differentiation and causes male infertility

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Disruption of an inner arm dynein heavy chain gene results in asthenozoospermia and reduced ciliary beat frequency

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

PIST: a novel PDZ/coiled-coil domain binding partner for the rho-family GTPase TC10

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2)

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

At least one of the protofilaments in flagellar microtubules is not composed of tubulin

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Male infertility and the genetics of spermatogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Functional coordination of intraflagellar transport motors.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Identification of predicted human outer dynein arm genes: candidates for primary ciliary dyskinesia genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Chlamydomonas IFT88 and its mouse homologue, polycystic kidney disease gene tg737, are required for assembly of cilia and flagella

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Pregnancy after ICSI with ejaculated immotile spermatozoa from a patient with immotile cilia syndrome: a case report and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Parkin-deficient mice are not a robust model of parkinsonism

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Evidence for a role for DNA polymerase beta in mammalian meiosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Characterisation of PGs1, a subunit of a protein complex co-purifying with tubulin polyglutamylase.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

More roles for selenoprotein P: local selenium storage and recycling protein in the brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Sperm tail abnormalities in mutant mice with neo(r) gene insertion into an intron of the keratin 9 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Inactivation of the HR6B ubiquitin-conjugating DNA repair enzyme in mice causes male sterility associated with chromatin modification.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Ethanol hypersensitivity and olfactory discrimination defect in mice lacking a homolog of Drosophila neuralized

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

The T complex distorter 2 candidate gene, Dnahc8, encodes at least two testis-specific axonemal dynein heavy chains that differ extensively at their amino and carboxyl termini

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Immotile sperm and infertility in mice lacking mitochondrial voltage-dependent anion channel type 3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

The murine voltage-dependent anion channel gene family. Conserved structure and function

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Male infertility, impaired sperm motility, and hydrocephalus in mice deficient in sperm-associated antigen 6

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Sperm antigen 6 is the murine homologue of the Chlamydomonas reinhardtii central apparatus protein encoded by the PF16 locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Segregation distortion of mouse t haplotypes the molecular basis emerges

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Gene disruption discloses role of selenoprotein P in selenium delivery to target tissues

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

The voltage-dependent anion channel in endoplasmic/sarcoplasmic reticulum: characterization, modulation and possible function.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Ciliary dyskinesia associated with hydrocephalus and mental retardation in a Jordanian family.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

MUTANT MICE (QUAKING AND JIMPY) WITH DEFICIENT MYELINATION IN THE CENTRAL NERVOUS SYSTEM

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Mutations in MKKS cause Bardet-Biedl syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

PF16 encodes a protein with armadillo repeats and localizes to a single microtubule of the central apparatus in Chlamydomonas flagella

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Here come the septins: novel polymers that coordinate intracellular functions and organization

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

The coiled tail of the round-headed spermatozoa appears during epididymal passage in GOPC-deficient mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

NudE-L, a novel Lis1-interacting protein, belongs to a family of vertebrate coiled-coil proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Nectins and nectin-like molecules: roles in cell adhesion, migration, and polarization.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Nectin and afadin: novel organizers of intercellular junctions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Mice deficient in the axonemal protein Tektin-t exhibit male infertility and immotile-cilium syndrome due to impaired inner arm dynein function

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Polaris, a protein involved in left-right axis patterning, localizes to basal bodies and cilia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Impairment of spermatogenesis leading to infertility

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Lessons from knockout and transgenic mice for infertility in men.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Isolation of a murine homologue of the Drosophila neuralized gene, a gene required for axonemal integrity in spermatozoa and terminal maturation of the mammary gland

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Interactions with PDZ domain proteins PIST/GOPC and PDZK1 regulate intracellular sorting of the somatostatin receptor subtype 5.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Identification of a novel gene linked to parkin via a bi-directional promoter

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Further studies on knockout mice lacking a functional dynein heavy chain (MDHC7). 2. A developmental explanation for the asthenozoospermia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Production of fertile offspring from genetically infertile male mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Lack of acrosome formation in mice lacking a Golgi protein, GOPC.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Neuralized functions as an E3 ubiquitin ligase during Drosophila development

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Investigation of the possible role of a novel gene, DPCD, in primary ciliary dyskinesia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Dissecting the axoneme interactome: the mammalian orthologue of Chlamydomonas PF6 interacts with sperm-associated antigen 6, the mammalian orthologue of Chlamydomonas PF16

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

Haploinsufficiency for the murine orthologue of Chlamydomonas PF20 disrupts spermatogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHUMUPD%2FDML013

21 January 2018

Identifiers

DOI

10.1093/HUMUPD/DML013

1 reference

14 August 2017

1 reference

PubMed ID

16565154