Lista de obras - Mark O'Driscoll - Dominio Público Uruguay

A Ku80 fragment with dominant negative activity imparts a radiosensitive phenotype to CHO-K1 cells

artículo científico

A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome

artículo científico publicado en 2003

ATM and DNA-PK function redundantly to phosphorylate H2AX after exposure to ionizing radiation

artículo científico publicado en 2004

ATR promotes cilia signalling: links to developmental impacts

artículo científico publicado en 2016

ATR-dependent phosphorylation and activation of ATM in response to UV treatment or replication fork stalling

artículo científico publicado en 2006

An overview of three new disorders associated with genetic instability: LIG4 syndrome, RS-SCID and ATR-Seckel syndrome

artículo científico publicado en 2004

CUL4B-deficiency in humans: understanding the clinical consequences of impaired Cullin 4-RING E3 ubiquitin ligase function

artículo científico publicado en 2011

Cellular and clinical impact of haploinsufficiency for genes involved in ATR signaling

artículo científico publicado en 2007

Characterizing the functional consequences of haploinsufficiency of NELF-A (WHSC2) and SLBP identifies novel cellular phenotypes in Wolf-Hirschhorn syndrome

artículo científico publicado en 2012

Clinical impact of ATR checkpoint signalling failure in humans

artículo científico publicado el 1 de mayo de 2003

Combined mismatch and nucleotide excision repair defects in a human cell line: mismatch repair processes methylation but not UV- or ionizing radiation-induced DNA damage.

artículo científico publicado en 1999

Congenital microcephaly

artículo científico

CsA can induce DNA double-strand breaks: implications for BMT regimens particularly for individuals with defective DNA repair

artículo científico publicado en 2008

DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency

artículo científico publicado en 2001

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

artículo científico publicado en 2012

Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism

scientific article published on 18 April 2019

Deficiency in origin licensing proteins impairs cilia formation: implications for the aetiology of Meier-Gorlin syndrome

artículo científico publicado en 2013

Diseases associated with defective responses to DNA damage

artículo científico publicado en 2012

Early Diagnosis of Werner's Syndrome Using Exome-Wide Sequencing in a Single, Atypical Patient

artículo científico publicado en 2011

Genetic defects in human pericentrin are associated with severe insulin resistance and diabetes

artículo científico publicado en 2011

Genetic variants of NHEJ DNA ligase IV can affect the risk of developing multiple myeloma, a tumour characterised by aberrant class switch recombination

artículo científico publicado en 2002

Germline mutation in ATR in autosomal- dominant oropharyngeal cancer syndrome.

artículo científico publicado en 2012

Haploinsufficiency of DNA Damage Response Genes and their Potential Influence in Human Genomic Disorders

artículo científico publicado en 2008

Human DNA damage response and repair deficiency syndromes: linking genomic instability and cell cycle checkpoint proficiency

artículo científico publicado en 2009

Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance

artículo científico publicado en 2014

INK4a/ARF-dependent senescence upon persistent replication stress ⬇️

artículo científico publicado el 11 de junio de 2013

Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of "PIK3CA-Related Overgrowth Spectrum".

artículo científico publicado en 2015

Identification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel Syndrome

artículo científico publicado en 2012

Identifying candidate genes for 2p15p16.1 microdeletion syndrome using clinical, genomic, and functional analysis.

artículo científico publicado en 2016

Immunological disorders and DNA repair

artículo científico publicado en 2002

Increased RPA1 gene dosage affects genomic stability potentially contributing to 17p13.3 duplication syndrome

artículo científico publicado en 2011

LETM1 haploinsufficiency causes mitochondrial defects in cells from humans with Wolf-Hirschhorn syndrome: implications for dissecting the underlying pathomechanisms in this condition

artículo científico publicado en 2014

Life can be stressful without ATR

Meier-Gorlin syndrome and Wolf-Hirschhorn syndrome: two developmental disorders highlighting the importance of efficient DNA replication for normal development and neurogenesis

artículo científico publicado en 2013

Microcephalin: a causal link between impaired damage response signalling and microcephaly

artículo científico publicado en 2006

Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.

artículo científico publicado en 2016

Mouse models for ATR deficiency

artículo científico publicado en 2009

Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism

artículo científico publicado en 2014

Mutations in Cullin 4B result in a human syndrome associated with increased camptothecin-induced topoisomerase I-dependent DNA breaks

artículo científico publicado en 2010

Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome

artículo científico publicado en 2011

Mutations in PIK3R1 cause SHORT syndrome

artículo científico publicado en 2013

Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome

artículo científico publicado en 2013

Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling

artículo científico

Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.

artículo científico publicado en 2017

Nbs1 is required for ATR-dependent phosphorylation events

artículo científico publicado en 2004

Neuropathology of fetal stage Seckel syndrome: a case report providing a morphological correlate for the emerging molecular mechanisms

artículo científico publicado en 2011

Oral-facial-digital syndrome type I cells exhibit impaired DNA repair; unanticipated consequences of defective OFD1 outside of the cilia network

artículo científico publicado en 2016

Regulation of DNA damage responses and cell cycle progression by hMOB2.

artículo científico publicado en 2014

Regulation of mitotic entry by microcephalin and its overlap with ATR signalling

artículo científico publicado en 2006

Replication independent ATR signalling leads to G2/M arrest requiring Nbs1, 53BP1 and MDC1.

artículo científico publicado en 2008

SHORT syndrome due to a novel de novo mutation in PRKCE (Protein Kinase Cɛ) impairing TORC2-dependent AKT activation

artículo científico publicado en 2017

Somatic PDGFRB Activating Variants in Fusiform Cerebral Aneurysms

scientific article published on 25 April 2019

TREX1 DNA exonuclease deficiency, accumulation of single stranded DNA and complex human genetic disorders

artículo científico publicado en 2008

The clinical and biological overlap between Nijmegen Breakage Syndrome and Fanconi anemia.

artículo científico publicado en 2004

The consequences of structural genomic alterations in humans: genomic disorders, genomic instability and cancer

artículo científico

The cytotoxicity of DNA carboxymethylation and methylation by the model carboxymethylating agent azaserine in human cells

article

The pathological consequences of impaired genome integrity in humans; disorders of the DNA replication machinery

artículo científico publicado en 2016

The role of double-strand break repair — insights from human genetics

artículo científico publicado en 2006

The role of the DNA damage response pathways in brain development and microcephaly: insight from human disorders

artículo científico publicado en 2008

UVB and caffeine: inhibiting the DNA damage response to protect against the adverse effects of UVB.

artículo científico publicado en 2009

Understanding the impact of 1q21.1 copy number variant

artículo científico publicado en 2011

Unravelling the web of DNA repair disorders

Variant ATRX syndrome with dysfunction of ATRX and MAGT1 genes

artículo científico publicado en 2014

XPC lymphoblastoid cells defective in the hMutSalpha DNA mismatch repair complex exhibit normal sensitivity to UVC radiation and normal transcription-coupled excision repair of DNA cyclobutane pyrimidine dimers

artículo científico publicado en 2004

Lista de obras de Mark O'Driscoll

A Ku80 fragment with dominant negative activity imparts a radiosensitive phenotype to CHO-K1 cells

A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome

ATM and DNA-PK function redundantly to phosphorylate H2AX after exposure to ionizing radiation

ATR promotes cilia signalling: links to developmental impacts

ATR-dependent phosphorylation and activation of ATM in response to UV treatment or replication fork stalling

An overview of three new disorders associated with genetic instability: LIG4 syndrome, RS-SCID and ATR-Seckel syndrome

CUL4B-deficiency in humans: understanding the clinical consequences of impaired Cullin 4-RING E3 ubiquitin ligase function

Cellular and clinical impact of haploinsufficiency for genes involved in ATR signaling

Characterizing the functional consequences of haploinsufficiency of NELF-A (WHSC2) and SLBP identifies novel cellular phenotypes in Wolf-Hirschhorn syndrome

Clinical impact of ATR checkpoint signalling failure in humans

Combined mismatch and nucleotide excision repair defects in a human cell line: mismatch repair processes methylation but not UV- or ionizing radiation-induced DNA damage.

Congenital microcephaly

CsA can induce DNA double-strand breaks: implications for BMT regimens particularly for individuals with defective DNA repair

DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism

Deficiency in origin licensing proteins impairs cilia formation: implications for the aetiology of Meier-Gorlin syndrome

Diseases associated with defective responses to DNA damage

Early Diagnosis of Werner's Syndrome Using Exome-Wide Sequencing in a Single, Atypical Patient

Genetic defects in human pericentrin are associated with severe insulin resistance and diabetes

Genetic variants of NHEJ DNA ligase IV can affect the risk of developing multiple myeloma, a tumour characterised by aberrant class switch recombination

Germline mutation in ATR in autosomal- dominant oropharyngeal cancer syndrome.

Haploinsufficiency of DNA Damage Response Genes and their Potential Influence in Human Genomic Disorders

Human DNA damage response and repair deficiency syndromes: linking genomic instability and cell cycle checkpoint proficiency

Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance

INK4a/ARF-dependent senescence upon persistent replication stress ⬇️

Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of "PIK3CA-Related Overgrowth Spectrum".

Identification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel Syndrome

Identifying candidate genes for 2p15p16.1 microdeletion syndrome using clinical, genomic, and functional analysis.

Immunological disorders and DNA repair

Increased RPA1 gene dosage affects genomic stability potentially contributing to 17p13.3 duplication syndrome

LETM1 haploinsufficiency causes mitochondrial defects in cells from humans with Wolf-Hirschhorn syndrome: implications for dissecting the underlying pathomechanisms in this condition

Life can be stressful without ATR

Meier-Gorlin syndrome and Wolf-Hirschhorn syndrome: two developmental disorders highlighting the importance of efficient DNA replication for normal development and neurogenesis

Microcephalin: a causal link between impaired damage response signalling and microcephaly

Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.

Mouse models for ATR deficiency

Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism

Mutations in Cullin 4B result in a human syndrome associated with increased camptothecin-induced topoisomerase I-dependent DNA breaks

Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome

Mutations in PIK3R1 cause SHORT syndrome

Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome

Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling

Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.

Nbs1 is required for ATR-dependent phosphorylation events

Neuropathology of fetal stage Seckel syndrome: a case report providing a morphological correlate for the emerging molecular mechanisms

Oral-facial-digital syndrome type I cells exhibit impaired DNA repair; unanticipated consequences of defective OFD1 outside of the cilia network

Regulation of DNA damage responses and cell cycle progression by hMOB2.

Regulation of mitotic entry by microcephalin and its overlap with ATR signalling

Replication independent ATR signalling leads to G2/M arrest requiring Nbs1, 53BP1 and MDC1.

SHORT syndrome due to a novel de novo mutation in PRKCE (Protein Kinase Cɛ) impairing TORC2-dependent AKT activation

Somatic PDGFRB Activating Variants in Fusiform Cerebral Aneurysms

TREX1 DNA exonuclease deficiency, accumulation of single stranded DNA and complex human genetic disorders

The clinical and biological overlap between Nijmegen Breakage Syndrome and Fanconi anemia.

The consequences of structural genomic alterations in humans: genomic disorders, genomic instability and cancer

The cytotoxicity of DNA carboxymethylation and methylation by the model carboxymethylating agent azaserine in human cells

The pathological consequences of impaired genome integrity in humans; disorders of the DNA replication machinery

The role of double-strand break repair — insights from human genetics

The role of the DNA damage response pathways in brain development and microcephaly: insight from human disorders

UVB and caffeine: inhibiting the DNA damage response to protect against the adverse effects of UVB.

Understanding the impact of 1q21.1 copy number variant

Unravelling the web of DNA repair disorders

Variant ATRX syndrome with dysfunction of ATRX and MAGT1 genes

XPC lymphoblastoid cells defective in the hMutSalpha DNA mismatch repair complex exhibit normal sensitivity to UVC radiation and normal transcription-coupled excision repair of DNA cyclobutane pyrimidine dimers