Lista de obras - N Thierry-Mieg - 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 model of elegance

artículo científico publicado en 1998

A new pooling strategy for high-throughput screening: the Shifted Transversal Design

artículo científico publicado en 2006

A protein-protein interaction map of the Caenorhabditis elegans 26S proteasome

artículo científico publicado en 2001

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

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

Biologie systémique

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

scientific article published on 01 October 2019

Encompassing new use cases - level 3.0 of the HUPO-PSI format for molecular interactions.

artículo científico publicado en 2018

Fine characterisation of a recombination hotspot at the DPY19L2 locus and resolution of the paradoxical excess of duplications over deletions in the general population

artículo científico publicado en 2013

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

Interaction networks as a tool to investigate the mechanisms of aging

artículo científico publicado en 2010

Interaction networks: from protein functions to drug discovery. A review

artículo científico publicado en 2008

Interpool: interpreting smart-pooling results

artículo científico publicado en 2008

Mapping Interactomes with High Coverage and Efficiency Using the Shifted Transversal Design

MatrixDB, a database focused on extracellular protein-protein and protein-carbohydrate interactions

artículo científico publicado en 2009

MatrixDB, the extracellular matrix interaction database ⬇️

artículo científico publicado en 2010

MatrixDB, the extracellular matrix interaction database: updated content, a new navigator and expanded functionalities

artículo científico publicado en 2014

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

New insights into protein-protein interaction data lead to increased estimates of the S. cerevisiae interactome size

artículo científico publicado en 2010

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

artículo científico publicado en 2018

Pooling in systems biology becomes smart

Protein interaction mapping in C. elegans using proteins involved in vulval development

artículo científico publicado en 2000

Proto-genes and de novo gene birth

artículo científico publicado en 2012

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

artículo científico publicado en 2017

Selective termination of lncRNA transcription promotes heterochromatin silencing and cell differentiation

artículo científico publicado en 2017

Shifted Transversal Design smart-pooling for high coverage interactome mapping

artículo científico publicado en 2009

T cell-mediated inflammation in adipose tissue does not cause insulin resistance in hyperlipidemic mice

artículo científico publicado en 2009

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 N Thierry-Mieg

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

A model of elegance

A new pooling strategy for high-throughput screening: the Shifted Transversal Design

A protein-protein interaction map of the Caenorhabditis elegans 26S proteasome

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

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

Biologie systémique

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

Encompassing new use cases - level 3.0 of the HUPO-PSI format for molecular interactions.

Fine characterisation of a recombination hotspot at the DPY19L2 locus and resolution of the paradoxical excess of duplications over deletions in the general population

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

Interaction networks as a tool to investigate the mechanisms of aging

Interaction networks: from protein functions to drug discovery. A review

Interpool: interpreting smart-pooling results

Mapping Interactomes with High Coverage and Efficiency Using the Shifted Transversal Design

MatrixDB, a database focused on extracellular protein-protein and protein-carbohydrate interactions

MatrixDB, the extracellular matrix interaction database ⬇️

MatrixDB, the extracellular matrix interaction database: updated content, a new navigator and expanded functionalities

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

New insights into protein-protein interaction data lead to increased estimates of the S. cerevisiae interactome size

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

Pooling in systems biology becomes smart

Protein interaction mapping in C. elegans using proteins involved in vulval development

Proto-genes and de novo gene birth

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

Selective termination of lncRNA transcription promotes heterochromatin silencing and cell differentiation

Shifted Transversal Design smart-pooling for high coverage interactome mapping

T cell-mediated inflammation in adipose tissue does not cause insulin resistance in hyperlipidemic mice

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