Samantha Carrera

Manchester, ENG M139PL, United Kingdom

Last Updated: 09/26/2026

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Found 12 publications

Biallelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency.

Biallelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency.

Journal: medRxiv : the preprint server for health sciences
Published: October 17, 2024

Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency.

Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency.

Journal: American journal of human genetics
Published: October 09, 2024

Biallelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered intrinsic and extrinsic apoptosis and a Perrault syndrome-spectrum phenotype.

Biallelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered intrinsic and extrinsic apoptosis and a Perrault syndrome-spectrum phenotype.

Journal: medRxiv : the preprint server for health sciences
Published: October 07, 2024

Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype.

Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype.

Journal: American journal of human genetics
Published: July 28, 2024

Cholesterol is required for transcriptional repression by BASP1.

Cholesterol is required for transcriptional repression by BASP1.

Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: July 16, 2021

Complexities in the role of acetylation dynamics in modifying inducible gene activation parameters.

Complexities in the role of acetylation dynamics in modifying inducible gene activation parameters.

Journal: Nucleic acids research
Published: June 04, 2021

BASP1 interacts with oestrogen receptor α and modifies the tamoxifen response.

BASP1 interacts with oestrogen receptor α and modifies the tamoxifen response.

Journal: Cell death & disease
Published: January 09, 2017

PISMA: A Visual Representation of Motif Distribution in DNA Sequences.

PISMA: A Visual Representation of Motif Distribution in DNA Sequences.

Journal: Bioinformatics and biology insights
Published: November 01, 2016

Characterization of novel markers of senescence and their prognostic potential in cancer.

Characterization of novel markers of senescence and their prognostic potential in cancer.

Journal: Cell death & disease
Published: July 28, 2014

The role of the HIF-1α transcription factor in increased cell division at physiological oxygen tensions.

The role of the HIF-1α transcription factor in increased cell division at physiological oxygen tensions.

Journal: PloS one
Published: January 08, 2014

Stra6, a retinoic acid-responsive gene, participates in p53-induced apoptosis after DNA damage.

Stra6, a retinoic acid-responsive gene, participates in p53-induced apoptosis after DNA damage.

Journal: Cell death and differentiation
Published: March 02, 2013

Reactive oxygen species and mitochondrial sensitivity to oxidative stress determine induction of cancer cell death by p21.

Reactive oxygen species and mitochondrial sensitivity to oxidative stress determine induction of cancer cell death by p21.

Journal: The Journal of biological chemistry
Published: February 08, 2012
Showing 1-12 of 12

Last Updated: 09/26/2026