Lista de obras - Ołdak M - Dominio Público Uruguay

A note of caution on the diagnosis of Martin-Probst syndrome by the detection of the p.D59G mutation in the RAB40AL gene.

artículo científico publicado en 2014

Advances in genetic hearing loss: CIB2 gene

artículo científico publicado en 2016

Analysis of major otosclerosis-associated variants in RELN and TGFB1 genes in Polish patients

Application of next‑generation sequencing to identify mitochondrial mutations: Study on m.7511T>C in patients with hearing loss

artículo científico publicado en 2017

Association of MYH9 rs3752462 and rs5756168 Polymorphisms With Transplanted Kidney Artery Stenosis.

artículo científico publicado en 2016

Association of UDP-glucuronosyltransferase 1A9 (UGT1A9) gene polymorphism with kidney allograft function

article

Autosomal dominant hearing loss – literature review

artículo científico publicado en 2023

Cervical cancer cell-derived interleukin-6 impairs CCR7-dependent migration of MMP-9-expressing dendritic cells.

artículo científico publicado en 2014

Chronic Inflammatory Microenvironment in Epidermodysplasia Verruciformis Skin Lesions: Role of the Synergism Between HPV8 E2 and C/EBPβ to Induce Pro-Inflammatory S100A8/A9 Proteins.

artículo científico publicado en 2018

Clinical aspects of disrupted Hedgehog signaling (Review).

artículo científico publicado en 2001

Clinical diversity in patients with Schnyder corneal dystrophy-a novel and known UBIAD1 pathogenic variants

artículo científico publicado en 2018

Cochlear Implantation Outcome in Children with DFNB1 locus Pathogenic Variants

scientific article published on 15 January 2020

Complex Phenotypic Presentation of Syndromic Hearing Loss Deciphered as Three Separate Clinical Entities: How Genetic Testing Guides Final Diagnosis

artículo científico publicado en 2020

Congenital anomalies and developmental delay in a boy with double chromosome 6 derived supernumerary marker.

artículo científico publicado en 2006

Differential regulation of human papillomavirus type 8 by interferon regulatory factors 3 and 7

artículo científico publicado en 2010

Effect of donor non-muscle myosin heavy chain (MYH9) gene polymorphisms on clinically relevant kidney allograft dysfunction

artículo científico publicado en 2020

Evidence against RAB40AL being the locus for Martin-Probst X-linked deafness-intellectual disability syndrome.

artículo científico publicado en 2014

Experimenal studies On cell and gene therapies for retinal dystrophies with a particular focus On ABCA4 retinopathies

Experimental studies on medical treatments of retinal dystrophies with a particular focus on ABCA4 retinopathies

Fibular aplasia with ectrodactyly--broadening the clinical spectrum

artículo científico publicado en 2005

First confirmatory study on PTPRQ as an autosomal dominant non-syndromic hearing loss gene

scientific article published on 26 October 2019

Fuchs Endothelial Corneal Dystrophy: Strong Association with rs613872 Not Paralleled by Changes in Corneal Endothelial TCF4 mRNA Level.

artículo científico publicado en 2015

Functional Polymorphism of <i>MMP9</i> and <i>BDNF</i> as Potential Biomarker of Auditory Neuroplasticity in Prelingual Deafness Treatment With Cochlear Implantation—A Retrospective Cohort Analysis

artículo científico publicado en 2021

GJB2 and hearing impairment: promoter defects do not explain the excess of monoallelic mutations.

artículo científico publicado en 2008

Gene dosage effect of p.Glu170Lys mutation in the KRT5 gene in a Polish family with epidermolysis bullosa simplex

article

Genetics of Meesmann corneal dystrophy: a novel mutation in the keratin 3 gene in an asymptomatic family suggests genotype-phenotype correlation

artículo científico publicado en 2008

Graft-to-host transmission of herpes simplex virus -- myth or reality?

artículo científico publicado en 2011

Hearing Loss as the Main Clinical Presentation in NLRP3-Associated Autoinflammatory Disease

artículo científico publicado en 2022

Hearing loss caused by mutations in mitochondrial DNA

scientific article published in 2020

High expression of Matrix Gla Protein in Schnyder corneal dystrophy patients points to an active role of vitamin K in corneal health

artículo científico publicado en 2020

Human papillomavirus type 8 E2 protein unravels JunB/Fra-1 as an activator of the beta4-integrin gene in human keratinocytes.

artículo científico publicado en 2009

Human papillomavirus type 8 interferes with a novel C/EBPβ-mediated mechanism of keratinocyte CCL20 chemokine expression and Langerhans cell migration.

artículo científico publicado en 2012

Identyfikacja molekularnej przyczyny epizodycznie postępującego niedosłuchu u pacjentki z poszerzonym wodociągiem przedsionka i dysplazją środkowo-szczytowych odcinków ślimaka

artículo científico publicado en 2018

Influence of culture medium pH on cytotoxicity of CD95L in vitro

artículo científico publicado en 2001

Integrin beta4, keratinocytes and papillomavirus infection.

artículo científico publicado en 2006

Isolation and culture of human primary keratinocytes-a methods review

artículo científico publicado en 2019

Iterative Sequencing and Variant Screening (ISVS) as a novel pathogenic mutations search strategy - application for TMPRSS3 mutations screen

artículo científico publicado en 2017

Late-onset lattice corneal dystrophy without typical lattice lines caused by a novel mutation in the TGFBI gene

artículo científico publicado en 2014

Longitudinal Changes in BDNF and MMP-9 Protein Plasma Levels in Children after Cochlear Implantation

artículo científico publicado en 2023

Longrange PCR-based next-generation sequencing in pharmacokinetics and pharmacodynamics study of propofol among patients under general anaesthesia.

artículo científico publicado en 2017

Lymphocyte counts in kidney allograft recipients are associated with IMPDH2 3757T>C gene polymorphism

artículo científico publicado en 2011

M34T and V37I mutations inGJB2 associated hearing impairment: Evidence for pathogenicity and reduced penetrance

artículo científico publicado en 2007

MMP-9 plasma level as biomarker of cochlear implantation outcome in cohort study of deaf children

scientific article published in 2023

MTHFR 677T is a strong determinant of the degree of hearing loss among Polish males with postlingual sensorineural hearing impairment

artículo científico publicado en 2012

Malnutrition Risk in Kidney Recipients Treated With Mycophenolate Mofetil Is Associated With IMPDH1 rs2278294 Polymorphism

scientific article published on 14 March 2018

Mitochondrial genome variation in male LHON patients with the m.11778G > A mutation

artículo científico publicado en 2020

Molecular Analysis of the ABCA4 Gene Mutations in Patients with Stargardt Disease Using Human Hair Follicles ⬇️

artículo científico publicado en 2020

Molecular activity of sirolimus and its possible application in tuberous sclerosis treatment

artículo científico publicado en 2006

Monogenic Causes of Low-Frequency Non-Syndromic Hearing Loss

scientific article published in 2023

Multidrug resistance-associated protein 2 gene (ABCC2) variant in kidney allograft recipients.

artículo científico publicado en 2009

Mutation analysis of mitochondrial 12S rRNA gene in Polish patients with non-syndromic and aminoglycoside-induced hearing loss.

artículo científico publicado en 2010

Natural cell-mediated cytotoxicity of peripheral blood lymphocytes against target cells transfected with epidermodysplasia verruciformis-specific human papillomavirus type 8 L1 DNA sequences

scientific article published on 01 January 2004

Next-generation sequencing of ABCA4: High frequency of complex alleles and novel mutations in patients with retinal dystrophies from Central Europe.

artículo científico publicado en 2015

Not only optic neuropathy: new molecular and clinical aspects of OPA1 gene mutations

artículo científico publicado en 2014

Novel and De Novo Mutations Extend Association of POU3F4 with Distinct Clinical and Radiological Phenotype of Hearing Loss.

artículo científico publicado en 2016

Novel de novo mutation in KRT14 underlies a localized form of epidermolysis bullosa simplex

artículo científico publicado en 2013

Novel keratin 14 hotspot mutation in Dowling-Meara type of epidermolysis bullosa simplex: strategy to avoid KRT14 pseudogene amplification by a simple approach.

artículo científico publicado en 2009

Novel neuro-audiological findings and further evidence for TWNK involvement in Perrault syndrome.

artículo científico publicado en 2017

Novel sporadic and recurrent mutations in KRT5 and KRT14 genes in Polish epidermolysis bullosa simplex patients: further insights into epidemiology and genotype-phenotype correlation

artículo científico publicado en 2015

OCT and in vivo confocal microscopy of a pigmented corneal tumor-like lesion

artículo científico publicado en 2009

ORF15 exon of the RPGR gene in retinitis pigmentosa – technically difficult, diagnostically important

Optical coherence tomography and in vivo confocal microscopy features of obstetric injury of the cornea.

artículo científico publicado en 2008

Overinterpretation of high throughput sequencing data in medical genetics: first evidence against TMPRSS3/GJB2 digenic inheritance of hearing loss

artículo científico publicado en 2019

POSTLINGUAL SENSORINEURAL HEARING LOSS DUE TO KNOWN TBC1D24 GENE ALTERATION

artículo científico publicado en 2022

Pathogenic p.Cys194Metfs*17 variant argues against TMPRSS3/GJB2 digenic inheritance of hearing loss.

artículo científico publicado en 2015

Pathology of mitochondria in MELAS syndrome: an ultrastructural study.

artículo científico publicado en 2017

Pentoxifylline inhibits leukocyte infiltration and splenocyte cytotoxicity against murine colon adenocarcinoma.

artículo científico publicado en 2003

Pentoxifylline inhibits perforin-dependent natural cytotoxicity in vitro.

artículo científico publicado en 2002

Phacoemulsification with corneal astigmatism correction with the use of a toric intraocular lens in a case of megalocornea

artículo científico publicado en 2011

Processing of OPA1 with a novel N-terminal mutation in patients with autosomal dominant optic atrophy: Escape from nonsense-mediated decay.

artículo científico

Prospective cohort study reveals MMP-9, a neuroplasticity regulator, as a prediction marker of cochlear implantation outcome in prelingual deafness treatment

artículo científico publicado en 2022

Radiologic measurement of cochlea and hearing preservation rate using slim straight electrode (CI422) and round window approach

artículo científico publicado en 2018

Recipient uridine 5'-diphospho-glucuronosyltransferase UGT1A9 c.98T>C variant determines transplanted kidney filtration rate.

artículo científico publicado en 2014

Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics

scientific article published on 20 April 2020

Signal transduction mechanisms induced by epidermal growth factor receptor (EGFR) and their role in apoptosis regulation

artículo científico publicado en 1999

TBC1D24 emerges as an important contributor to progressive postlingual dominant hearing loss

artículo científico publicado en 2021

Testosterone increases apoptotic cell death and decreases mitophagy in Leber's hereditary optic neuropathy cells

artículo científico publicado en 2020

The Genetic Background of Hearing Loss in Patients with EVA and Cochlear Malformation

scientific article published in 2023

The Papillomavirus E2 protein binds to and synergizes with C/EBP factors involved in keratinocyte differentiation

artículo científico publicado en 2003

The adenoviral E1A oncoprotein activates the Smad7 promoter: requirement of a functional E-box

artículo científico publicado en 2009

The contribution of the mitochondrial COI/tRNA(Ser(UCN)) gene mutations to non-syndromic and aminoglycoside-induced hearing loss in Polish patients

artículo científico publicado en 2011

The human papillomavirus type 8 E2 protein suppresses beta4-integrin expression in primary human keratinocytes

artículo científico publicado en 2004

Tinnitus in patients with hearing loss due to mitochondrial DNA pathogenic variants

scholarly article by Urszula Lechowicz et al published August 2018 in European Archives of Oto-Rhino-Laryngology

Tuberin-heterozygous cell line TSC2ang1 as a model for tuberous sclerosis-associated skin lesions.

artículo científico publicado en 2008

Two Novel Pathogenic Variants Confirm RMND1 Causative Role in Perrault Syndrome with Renal Involvement

scientific article published on 08 September 2020

Update on CD164 and LMX1A genes to strengthen their causative role in autosomal dominant hearing loss

artículo científico publicado en 2022

Upregulation of the WNT pathway in tuberous sclerosis-associated subependymal giant cell astrocytomas.

artículo científico publicado en 2006

Uridine diphosphate glucuronosyltransferase 2B7 variant p.His268Tyr as a predictor of kidney allograft early acute rejection.

artículo científico publicado en 2013

Whole exome sequencing identifies TRIOBP pathogenic variants as a cause of post-lingual bilateral moderate-to-severe sensorineural hearing loss

artículo científico publicado en 2017

X-linked retinoschisis--clinical manifestation, genetic and electrophysiological analysis of three generations with p.Arg197Cys mutation of RS1 gene

artículo científico publicado en 2014

[Fuchs endothelial corneal dystrophy and trinucleotide repeat expansion in TCF4--implications for diagnostics and therapy]

[Induction of apoptosis by receptors for factors from the TNF family]

artículo científico publicado en 1999

Lista de obras de Ołdak M

A note of caution on the diagnosis of Martin-Probst syndrome by the detection of the p.D59G mutation in the RAB40AL gene.

Advances in genetic hearing loss: CIB2 gene

Analysis of major otosclerosis-associated variants in RELN and TGFB1 genes in Polish patients

Application of next‑generation sequencing to identify mitochondrial mutations: Study on m.7511T>C in patients with hearing loss

Association of MYH9 rs3752462 and rs5756168 Polymorphisms With Transplanted Kidney Artery Stenosis.

Association of UDP-glucuronosyltransferase 1A9 (UGT1A9) gene polymorphism with kidney allograft function

Autosomal dominant hearing loss – literature review

Cervical cancer cell-derived interleukin-6 impairs CCR7-dependent migration of MMP-9-expressing dendritic cells.

Chronic Inflammatory Microenvironment in Epidermodysplasia Verruciformis Skin Lesions: Role of the Synergism Between HPV8 E2 and C/EBPβ to Induce Pro-Inflammatory S100A8/A9 Proteins.

Clinical aspects of disrupted Hedgehog signaling (Review).

Clinical diversity in patients with Schnyder corneal dystrophy-a novel and known UBIAD1 pathogenic variants

Cochlear Implantation Outcome in Children with DFNB1 locus Pathogenic Variants

Complex Phenotypic Presentation of Syndromic Hearing Loss Deciphered as Three Separate Clinical Entities: How Genetic Testing Guides Final Diagnosis

Congenital anomalies and developmental delay in a boy with double chromosome 6 derived supernumerary marker.

Differential regulation of human papillomavirus type 8 by interferon regulatory factors 3 and 7

Effect of donor non-muscle myosin heavy chain (MYH9) gene polymorphisms on clinically relevant kidney allograft dysfunction

Evidence against RAB40AL being the locus for Martin-Probst X-linked deafness-intellectual disability syndrome.

Experimenal studies On cell and gene therapies for retinal dystrophies with a particular focus On ABCA4 retinopathies

Experimental studies on medical treatments of retinal dystrophies with a particular focus on ABCA4 retinopathies

Fibular aplasia with ectrodactyly--broadening the clinical spectrum

First confirmatory study on PTPRQ as an autosomal dominant non-syndromic hearing loss gene

Fuchs Endothelial Corneal Dystrophy: Strong Association with rs613872 Not Paralleled by Changes in Corneal Endothelial TCF4 mRNA Level.

Functional Polymorphism of <i>MMP9</i> and <i>BDNF</i> as Potential Biomarker of Auditory Neuroplasticity in Prelingual Deafness Treatment With Cochlear Implantation—A Retrospective Cohort Analysis

GJB2 and hearing impairment: promoter defects do not explain the excess of monoallelic mutations.

Gene dosage effect of p.Glu170Lys mutation in the KRT5 gene in a Polish family with epidermolysis bullosa simplex

Genetics of Meesmann corneal dystrophy: a novel mutation in the keratin 3 gene in an asymptomatic family suggests genotype-phenotype correlation

Graft-to-host transmission of herpes simplex virus -- myth or reality?

Hearing Loss as the Main Clinical Presentation in NLRP3-Associated Autoinflammatory Disease

Hearing loss caused by mutations in mitochondrial DNA

High expression of Matrix Gla Protein in Schnyder corneal dystrophy patients points to an active role of vitamin K in corneal health

Human papillomavirus type 8 E2 protein unravels JunB/Fra-1 as an activator of the beta4-integrin gene in human keratinocytes.

Human papillomavirus type 8 interferes with a novel C/EBPβ-mediated mechanism of keratinocyte CCL20 chemokine expression and Langerhans cell migration.

Identyfikacja molekularnej przyczyny epizodycznie postępującego niedosłuchu u pacjentki z poszerzonym wodociągiem przedsionka i dysplazją środkowo-szczytowych odcinków ślimaka

Influence of culture medium pH on cytotoxicity of CD95L in vitro

Integrin beta4, keratinocytes and papillomavirus infection.

Isolation and culture of human primary keratinocytes-a methods review

Iterative Sequencing and Variant Screening (ISVS) as a novel pathogenic mutations search strategy - application for TMPRSS3 mutations screen

Late-onset lattice corneal dystrophy without typical lattice lines caused by a novel mutation in the TGFBI gene

Longitudinal Changes in BDNF and MMP-9 Protein Plasma Levels in Children after Cochlear Implantation

Longrange PCR-based next-generation sequencing in pharmacokinetics and pharmacodynamics study of propofol among patients under general anaesthesia.

Lymphocyte counts in kidney allograft recipients are associated with IMPDH2 3757T>C gene polymorphism

M34T and V37I mutations inGJB2 associated hearing impairment: Evidence for pathogenicity and reduced penetrance

MMP-9 plasma level as biomarker of cochlear implantation outcome in cohort study of deaf children

MTHFR 677T is a strong determinant of the degree of hearing loss among Polish males with postlingual sensorineural hearing impairment

Malnutrition Risk in Kidney Recipients Treated With Mycophenolate Mofetil Is Associated With IMPDH1 rs2278294 Polymorphism

Mitochondrial genome variation in male LHON patients with the m.11778G > A mutation

Molecular Analysis of the ABCA4 Gene Mutations in Patients with Stargardt Disease Using Human Hair Follicles ⬇️

Molecular activity of sirolimus and its possible application in tuberous sclerosis treatment

Monogenic Causes of Low-Frequency Non-Syndromic Hearing Loss

Multidrug resistance-associated protein 2 gene (ABCC2) variant in kidney allograft recipients.

Mutation analysis of mitochondrial 12S rRNA gene in Polish patients with non-syndromic and aminoglycoside-induced hearing loss.

Natural cell-mediated cytotoxicity of peripheral blood lymphocytes against target cells transfected with epidermodysplasia verruciformis-specific human papillomavirus type 8 L1 DNA sequences

Next-generation sequencing of ABCA4: High frequency of complex alleles and novel mutations in patients with retinal dystrophies from Central Europe.

Not only optic neuropathy: new molecular and clinical aspects of OPA1 gene mutations

Novel and De Novo Mutations Extend Association of POU3F4 with Distinct Clinical and Radiological Phenotype of Hearing Loss.

Novel de novo mutation in KRT14 underlies a localized form of epidermolysis bullosa simplex

Novel keratin 14 hotspot mutation in Dowling-Meara type of epidermolysis bullosa simplex: strategy to avoid KRT14 pseudogene amplification by a simple approach.

Novel neuro-audiological findings and further evidence for TWNK involvement in Perrault syndrome.

Novel sporadic and recurrent mutations in KRT5 and KRT14 genes in Polish epidermolysis bullosa simplex patients: further insights into epidemiology and genotype-phenotype correlation

OCT and in vivo confocal microscopy of a pigmented corneal tumor-like lesion

ORF15 exon of the RPGR gene in retinitis pigmentosa – technically difficult, diagnostically important

Optical coherence tomography and in vivo confocal microscopy features of obstetric injury of the cornea.

Overinterpretation of high throughput sequencing data in medical genetics: first evidence against TMPRSS3/GJB2 digenic inheritance of hearing loss

POSTLINGUAL SENSORINEURAL HEARING LOSS DUE TO KNOWN TBC1D24 GENE ALTERATION

Pathogenic p.Cys194Metfs*17 variant argues against TMPRSS3/GJB2 digenic inheritance of hearing loss.

Pathology of mitochondria in MELAS syndrome: an ultrastructural study.

Pentoxifylline inhibits leukocyte infiltration and splenocyte cytotoxicity against murine colon adenocarcinoma.

Pentoxifylline inhibits perforin-dependent natural cytotoxicity in vitro.

Phacoemulsification with corneal astigmatism correction with the use of a toric intraocular lens in a case of megalocornea

Processing of OPA1 with a novel N-terminal mutation in patients with autosomal dominant optic atrophy: Escape from nonsense-mediated decay.

Prospective cohort study reveals MMP-9, a neuroplasticity regulator, as a prediction marker of cochlear implantation outcome in prelingual deafness treatment

Radiologic measurement of cochlea and hearing preservation rate using slim straight electrode (CI422) and round window approach

Recipient uridine 5'-diphospho-glucuronosyltransferase UGT1A9 c.98T>C variant determines transplanted kidney filtration rate.

Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics

Signal transduction mechanisms induced by epidermal growth factor receptor (EGFR) and their role in apoptosis regulation

TBC1D24 emerges as an important contributor to progressive postlingual dominant hearing loss

Testosterone increases apoptotic cell death and decreases mitophagy in Leber's hereditary optic neuropathy cells

The Genetic Background of Hearing Loss in Patients with EVA and Cochlear Malformation

The Papillomavirus E2 protein binds to and synergizes with C/EBP factors involved in keratinocyte differentiation