Lista de obras - Guillaume Martinez - Dominio Público Uruguay

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

article

A specific CBP/p300-dependent gene expression programme drives the metabolic remodelling in late stages of spermatogenesis.

artículo científico publicado en 2014

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 Dpy19l2, a new inner nuclear membrane protein, causes globozoospermia in mice by preventing the anchoring of the acrosome to the nucleus

scientific journal article

Actiflagelin, a new sperm activator isolated from Walterinnesia aegyptia venom using phenotypic screening.

artículo científico publicado en 2018

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

Deslorelin acetate implant induces transient sterility and behavior changes in male olive baboon (Papio anubis): A case study

scientific article published on 10 June 2020

Dpy19l2-deficient globozoospermic sperm display altered genome packaging and DNA damage that compromises the initiation of embryo development

artículo científico publicado en 2014

Enzymatic activity of mouse group X-sPLA2 improves in vitro production of preimplantation bovine embryos

scientific article published on 01 April 2019

FISH and tips: a large scale analysis of automated versus manual scoring for sperm aneuploidy detection.

artículo científico publicado en 2013

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 mutation of PLCZ1 leads to defective human oocyte activation and infertility that is not rescued by the WW-binding protein PAWP

scientific journal article

Impact of Hodgkin or non-Hodgkin lymphoma and their treatments on sperm aneuploidy: a prospective study by the French CECOS network

artículo científico publicado en 2016

Is sperm FISH analysis still useful for Robertsonian translocations? Meiotic analysis for 23 patients and review of the literature.

artículo científico publicado en 2018

Loss of the deglutamylase CCP5 perturbs multiple steps of spermatogenesis and leads to male infertility

scientific article published on 07 February 2019

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

artículo científico publicado en 2018

Mutations of the aurora kinase C gene causing macrozoospermia are the most frequent genetic cause of male infertility in Algerian men.

artículo científico publicado en 2015

PATL2 is a key actor of oocyte maturation whose invalidation causes infertility in women and mice.

artículo científico publicado en 2018

Patients with multiple morphological abnormalities of the sperm flagella due to DNAH1 mutations have a good prognosis following intracytoplasmic sperm injection.

artículo científico publicado en 2016

Progesterone-induced Acrosome Exocytosis Requires Sequential Involvement of Calcium-independent Phospholipase A2β (iPLA2β) and Group X Secreted Phospholipase A2 (sPLA2)

artículo científico publicado en 2015

SPINK2 deficiency causes infertility by inducing sperm defects in heterozygotes and azoospermia in homozygotes

artículo científico publicado en 2017

Slo3 K+ channel blocker clofilium extends bull and mouse sperm-fertilizing competence

scientific article published on 01 December 2018

Spermaurin, an La1-like peptide from the venom of the scorpion Scorpio maurus palmatus, improves sperm motility and fertilization in different mammalian species.

artículo científico publicado en 2016

Subcellular localization of phospholipase Cζ in human sperm and its absence in DPY19L2-deficient sperm are consistent with its role in oocyte activation

artículo científico publicado en 2014

Teratozoospermia: spotlight on the main genetic actors in the human

artículo científico

The genetic architecture of morphological abnormalities of the sperm tail

artículo científico publicado en 2020

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

Lista de obras de Guillaume Martinez

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

A specific CBP/p300-dependent gene expression programme drives the metabolic remodelling in late stages of spermatogenesis.

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

Absence of Dpy19l2, a new inner nuclear membrane protein, causes globozoospermia in mice by preventing the anchoring of the acrosome to the nucleus

Actiflagelin, a new sperm activator isolated from Walterinnesia aegyptia venom using phenotypic screening.

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

Deslorelin acetate implant induces transient sterility and behavior changes in male olive baboon (Papio anubis): A case study

Dpy19l2-deficient globozoospermic sperm display altered genome packaging and DNA damage that compromises the initiation of embryo development

Enzymatic activity of mouse group X-sPLA2 improves in vitro production of preimplantation bovine embryos

FISH and tips: a large scale analysis of automated versus manual scoring for sperm aneuploidy detection.

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

Homozygous mutation of PLCZ1 leads to defective human oocyte activation and infertility that is not rescued by the WW-binding protein PAWP

Impact of Hodgkin or non-Hodgkin lymphoma and their treatments on sperm aneuploidy: a prospective study by the French CECOS network

Is sperm FISH analysis still useful for Robertsonian translocations? Meiotic analysis for 23 patients and review of the literature.

Loss of the deglutamylase CCP5 perturbs multiple steps of spermatogenesis and leads to male infertility

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

Mutations of the aurora kinase C gene causing macrozoospermia are the most frequent genetic cause of male infertility in Algerian men.

PATL2 is a key actor of oocyte maturation whose invalidation causes infertility in women and mice.

Patients with multiple morphological abnormalities of the sperm flagella due to DNAH1 mutations have a good prognosis following intracytoplasmic sperm injection.

Progesterone-induced Acrosome Exocytosis Requires Sequential Involvement of Calcium-independent Phospholipase A2β (iPLA2β) and Group X Secreted Phospholipase A2 (sPLA2)

SPINK2 deficiency causes infertility by inducing sperm defects in heterozygotes and azoospermia in homozygotes

Slo3 K+ channel blocker clofilium extends bull and mouse sperm-fertilizing competence

Spermaurin, an La1-like peptide from the venom of the scorpion Scorpio maurus palmatus, improves sperm motility and fertilization in different mammalian species.

Subcellular localization of phospholipase Cζ in human sperm and its absence in DPY19L2-deficient sperm are consistent with its role in oocyte activation

Teratozoospermia: spotlight on the main genetic actors in the human

The genetic architecture of morphological abnormalities of the sperm tail

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