Lista de obras -

A Homozygous Ancestral SVA-Insertion-Mediated Deletion in WDR66 Induces Multiple Morphological Abnormalities of the Sperm Flagellum and Male Infertility

article

A protein encoded by a member of the multicopy Ssty gene family located on the long arm of the mouse Y chromosome is expressed during sperm development.

artículo científico publicado en 2004

Absence of CFAP69 Causes Male Infertility due to Multiple Morphological Abnormalities of the Flagella in Human and Mouse.

artículo científico publicado en 2018

Absence of annulus in human asthenozoospermia: case report.

artículo científico publicado en 2009

Assessment of the frequency of sperm annulus defects in a large cohort of patients presenting asthenozoospermia

artículo científico publicado en 2015

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

artículo científico publicado en 2019

Biallelic variants in MAATS1 encoding CFAP91, a calmodulin-associated and spoke-associated complex protein, cause severe astheno-teratozoospermia and male infertility

scientific article published on 11 March 2020

CFAP70 mutations lead to male infertility due to severe astheno-teratozoospermia. A case report

scientific article published on 01 October 2019

Corrigendum: 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

artículo científico publicado en 2019

Deletion of MgcRacGAP in the male germ cells impairs spermatogenesis and causes male sterility in the mouse.

artículo científico publicado en 2013

Functional interaction of the cystic fibrosis transmembrane conductance regulator with members of the SLC26 family of anion transporters (SLC26A8 and SLC26A9): physiological and pathophysiological relevance

artículo científico

Genetic abnormalities leading to qualitative defects of sperm morphology or function.

artículo científico publicado en 2016

Genetic causes of male infertility: snapshot on morphological abnormalities of the sperm flagellum

article

Genomic duplication in the 19q13.42 imprinted region identified as a new genetic cause of intrauterine growth restriction

scientific article published on 17 October 2018

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.

artículo científico publicado en 2018

Importance of SLC26 Transmembrane Anion Exchangers in Sperm Post-testicular Maturation and Fertilization Potential

scientific article published on 18 October 2019

In-vitro effects of Thymus munbyanus essential oil and thymol on human sperm motility and function

artículo científico publicado en 2015

Inactivation of AMPKα1 induces asthenozoospermia and alters spermatozoa morphology

artículo científico publicado en 2012

Male Infertility: Genetics, Mechanism, and Therapies

artículo científico

MgcRacGAP, A New Human GTPase-activating Protein for Rac and Cdc42 Similar to Drosophila rotundRacGAP Gene Product, Is Expressed in Male Germ Cells ⬇️

artículo científico publicado el 13 de marzo de 1998

Missense mutations in SLC26A8, encoding a sperm-specific activator of CFTR, are associated with human asthenozoospermia

artículo científico publicado en 2013

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

artículo científico publicado en 2018

Mutations in DNAH1, which encodes an inner arm heavy chain dynein, lead to male infertility from multiple morphological abnormalities of the sperm flagella

artículo científico publicado en 2014

Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia

artículo científico publicado en 2019

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

scientific journal article

Mutations in TTC29, Encoding an Evolutionarily Conserved Axonemal Protein, Result in Asthenozoospermia and Male Infertility

artículo científico publicado en 2019

SSTY proteins co-localize with the post-meiotic sex chromatin and interact with regulators of its expression

artículo científico publicado en 2014

Septins at the annulus of mammalian sperm ⬇️

artículo científico publicado el 11 de julio de 2011

Single gene defects leading to sperm quantitative anomalies.

artículo científico publicado en 2016

Slc26a3 deficiency is associated with epididymis dysplasia and impaired sperm fertilization potential in the mouse

artículo científico publicado en 2018

Spermatozoa and Plasmodium zoites: the same way to invade oocyte and host cells?

artículo científico publicado en 2012

TTC12 Loss-of-Function Mutations Cause Primary Ciliary Dyskinesia and Unveil Distinct Dynein Assembly Mechanisms in Motile Cilia Versus Flagella

scientific article published on 23 January 2020

Tat1, a novel sulfate transporter specifically expressed in human male germ cells and potentially linked to rhogtpase signaling

artículo científico publicado en 2001

The genetic architecture of morphological abnormalities of the sperm tail

artículo científico publicado en 2020

The testis anion transporter TAT1 (SLC26A8) physically and functionally interacts with the cystic fibrosis transmembrane conductance regulator channel: a potential role during sperm capacitation

artículo científico publicado en 2012

Tubulin glycylation controls axonemal dynein activity, flagellar beat, and male fertility

artículo científico publicado en 2021

Whole exome sequencing of men with multiple morphological abnormalities of the sperm flagella reveals novel homozygous QRICH2 mutations

artículo científico publicado en 2019

Whole-exome sequencing identifies mutations in FSIP2 as a recurrent cause of multiple morphological abnormalities of the sperm flagella

scientific article published on 01 October 2018

[An anion transporter is essential for spermatozoa motility]

scientific article published on 01 March 2008

[Human asthenozoospermia and structural defects of the annulus]

artículo científico publicado en 2010

[Morphological defects of sperm flagellum implicated in human male infertility]

artículo científico publicado en 2012

Lista de obras de

A Homozygous Ancestral SVA-Insertion-Mediated Deletion in WDR66 Induces Multiple Morphological Abnormalities of the Sperm Flagellum and Male Infertility

A protein encoded by a member of the multicopy Ssty gene family located on the long arm of the mouse Y chromosome is expressed during sperm development.

Absence of CFAP69 Causes Male Infertility due to Multiple Morphological Abnormalities of the Flagella in Human and Mouse.

Absence of annulus in human asthenozoospermia: case report.

Assessment of the frequency of sperm annulus defects in a large cohort of patients presenting asthenozoospermia

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

Biallelic variants in MAATS1 encoding CFAP91, a calmodulin-associated and spoke-associated complex protein, cause severe astheno-teratozoospermia and male infertility

CFAP70 mutations lead to male infertility due to severe astheno-teratozoospermia. A case report

Corrigendum: 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

Deletion of MgcRacGAP in the male germ cells impairs spermatogenesis and causes male sterility in the mouse.

Functional interaction of the cystic fibrosis transmembrane conductance regulator with members of the SLC26 family of anion transporters (SLC26A8 and SLC26A9): physiological and pathophysiological relevance

Genetic abnormalities leading to qualitative defects of sperm morphology or function.

Genetic causes of male infertility: snapshot on morphological abnormalities of the sperm flagellum

Genomic duplication in the 19q13.42 imprinted region identified as a new genetic cause of intrauterine growth restriction

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.

Importance of SLC26 Transmembrane Anion Exchangers in Sperm Post-testicular Maturation and Fertilization Potential

In-vitro effects of Thymus munbyanus essential oil and thymol on human sperm motility and function

Inactivation of AMPKα1 induces asthenozoospermia and alters spermatozoa morphology

Male Infertility: Genetics, Mechanism, and Therapies

MgcRacGAP, A New Human GTPase-activating Protein for Rac and Cdc42 Similar to Drosophila rotundRacGAP Gene Product, Is Expressed in Male Germ Cells ⬇️

Missense mutations in SLC26A8, encoding a sperm-specific activator of CFTR, are associated with human asthenozoospermia

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

Mutations in DNAH1, which encodes an inner arm heavy chain dynein, lead to male infertility from multiple morphological abnormalities of the sperm flagella

Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia

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

Mutations in TTC29, Encoding an Evolutionarily Conserved Axonemal Protein, Result in Asthenozoospermia and Male Infertility

SSTY proteins co-localize with the post-meiotic sex chromatin and interact with regulators of its expression

Septins at the annulus of mammalian sperm ⬇️

Single gene defects leading to sperm quantitative anomalies.

Slc26a3 deficiency is associated with epididymis dysplasia and impaired sperm fertilization potential in the mouse

Spermatozoa and Plasmodium zoites: the same way to invade oocyte and host cells?

TTC12 Loss-of-Function Mutations Cause Primary Ciliary Dyskinesia and Unveil Distinct Dynein Assembly Mechanisms in Motile Cilia Versus Flagella

Tat1, a novel sulfate transporter specifically expressed in human male germ cells and potentially linked to rhogtpase signaling

The genetic architecture of morphological abnormalities of the sperm tail

The testis anion transporter TAT1 (SLC26A8) physically and functionally interacts with the cystic fibrosis transmembrane conductance regulator channel: a potential role during sperm capacitation

Tubulin glycylation controls axonemal dynein activity, flagellar beat, and male fertility

Whole exome sequencing of men with multiple morphological abnormalities of the sperm flagella reveals novel homozygous QRICH2 mutations

Whole-exome sequencing identifies mutations in FSIP2 as a recurrent cause of multiple morphological abnormalities of the sperm flagella

[An anion transporter is essential for spermatozoa motility]

[Human asthenozoospermia and structural defects of the annulus]

[Morphological defects of sperm flagellum implicated in human male infertility]