Lista de obras - Elena J Tucker - Dominio Público Uruguay

156 A Novel Mutation in the Nfkb2 Gene Generates an NFκB2 ‘Super Repressor’

article

22q11.2 rearrangements found in women with low ovarian reserve and premature ovarian insufficiency

artículo científico publicado en 2018

A Human Homozygous HELQ Missense Variant Does Not Cause Premature Ovarian Insufficiency in a Mouse Model

artículo científico publicado en 2024

A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome

artículo científico publicado en 2014

A novel mutation in the Nfkb2 gene generates an NF-kappa B2 "super repressor".

artículo científico publicado en 2007

A recessive variant in TFAM causes mtDNA depletion associated with primary ovarian insufficiency, seizures, intellectual disability and hearing loss

scientific article published in 2021

ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism

artículo científico publicado en 2017

Acoustic microstreaming increases the efficiency of reverse transcription reactions comprising single-cell quantities of RNA.

artículo científico publicado en 2011

Analysis of NR5A1 in 142 patients with premature ovarian insufficiency, diminished ovarian reserve, or unexplained infertility

scientific article published on 09 November 2019

Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM)

artículo científico publicado en 2020

HEK293T Cells with TFAM Disruption by CRISPR-Cas9 as a Model for Mitochondrial Regulation

artículo científico publicado en 2021

High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency

artículo científico publicado en 2010

Identification of variants in pleiotropic genes causing "isolated" premature ovarian insufficiency: implications for medical practice

article

Integral Role of the Mitochondrial Ribosome in Supporting Ovarian Function: MRPS7 Variants in Syndromic Premature Ovarian Insufficiency

artículo científico publicado en 2022

LARS2 variants can present as premature ovarian insufficiency in the absence of overt hearing loss

scientific article published in 2022

Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing

artículo científico publicado en 2012

Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes

artículo científico publicado en 2013

Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation

artículo científico publicado en 2011

Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation

Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression

artículo científico publicado en 2013

Mutations in the gene encoding C8orf38 block complex I assembly by inhibiting production of the mitochondria-encoded subunit ND1

artículo científico publicado en 2011

New insights into the genetic basis of premature ovarian insufficiency: Novel causative variants and candidate genes revealed by genomic sequencing

scientific article published on 20 June 2020

Next-generation sequencing in molecular diagnosis:NUBPLmutations highlight the challenges of variant detection and interpretation

artículo científico publicado en 2011

Premature Ovarian Insufficiency: New Perspectives on Genetic Cause and Phenotypic Spectrum

artículo científico publicado en 2016

Premature ovarian insufficiency in CLPB deficiency: transcriptomic, proteomic and phenotypic insights

artículo científico publicado en 2022

Pseudodicentric Chromosome Originating from Autosomes 9 and 21 in a Male Patient with Oligozoospermia

artículo científico publicado en 2019

Q&A: End-game winner

artículo científico publicado en 2015

Rare variants in non-coding regulatory regions of the genome that affect gene expression in systemic lupus erythematosus

scientific article published on 28 October 2019

Recent advances in the genetics of mitochondrial encephalopathies

artículo científico publicado en 2010

Respiratory chain complex I deficiency caused by mitochondrial DNA mutations

artículo científico publicado en 2011

STAG3 homozygous missense variant causes primary ovarian insufficiency and male non-obstructive azoospermia

artículo científico publicado en 2020

TP63-truncating variants cause isolated premature ovarian insufficiency

artículo científico publicado en 2019

The molecular basis of human complex I deficiency.

artículo científico publicado en 2011

Lista de obras de Elena J Tucker

156 A Novel Mutation in the Nfkb2 Gene Generates an NFκB2 ‘Super Repressor’

22q11.2 rearrangements found in women with low ovarian reserve and premature ovarian insufficiency

A Human Homozygous HELQ Missense Variant Does Not Cause Premature Ovarian Insufficiency in a Mouse Model

A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome

A novel mutation in the Nfkb2 gene generates an NF-kappa B2 "super repressor".

A recessive variant in TFAM causes mtDNA depletion associated with primary ovarian insufficiency, seizures, intellectual disability and hearing loss

ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism

Acoustic microstreaming increases the efficiency of reverse transcription reactions comprising single-cell quantities of RNA.

Analysis of NR5A1 in 142 patients with premature ovarian insufficiency, diminished ovarian reserve, or unexplained infertility

Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM)

HEK293T Cells with TFAM Disruption by CRISPR-Cas9 as a Model for Mitochondrial Regulation

High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency

Identification of variants in pleiotropic genes causing "isolated" premature ovarian insufficiency: implications for medical practice

Integral Role of the Mitochondrial Ribosome in Supporting Ovarian Function: MRPS7 Variants in Syndromic Premature Ovarian Insufficiency

LARS2 variants can present as premature ovarian insufficiency in the absence of overt hearing loss

Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing

Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes

Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation

Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation

Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression

Mutations in the gene encoding C8orf38 block complex I assembly by inhibiting production of the mitochondria-encoded subunit ND1

New insights into the genetic basis of premature ovarian insufficiency: Novel causative variants and candidate genes revealed by genomic sequencing

Next-generation sequencing in molecular diagnosis:NUBPLmutations highlight the challenges of variant detection and interpretation

Premature Ovarian Insufficiency: New Perspectives on Genetic Cause and Phenotypic Spectrum

Premature ovarian insufficiency in CLPB deficiency: transcriptomic, proteomic and phenotypic insights

Pseudodicentric Chromosome Originating from Autosomes 9 and 21 in a Male Patient with Oligozoospermia

Q&A: End-game winner

Rare variants in non-coding regulatory regions of the genome that affect gene expression in systemic lupus erythematosus

Recent advances in the genetics of mitochondrial encephalopathies

Respiratory chain complex I deficiency caused by mitochondrial DNA mutations

STAG3 homozygous missense variant causes primary ovarian insufficiency and male non-obstructive azoospermia

TP63-truncating variants cause isolated premature ovarian insufficiency

The molecular basis of human complex I deficiency.