Lista de obras - Heymut Omran - Dominio Público Uruguay

A bumpy road to the diagnosis of a Kytococcus schroeteri shunt infection

artículo científico publicado en 2012

A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome

artículo científico publicado en 2006

A reach-out system for video microscopy analysis of ciliary motions aiding PCD diagnosis

artículo científico publicado en 2015

ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry

artículo científico publicado en 2013

Abstracts of the 52nd Workshop for Pediatric Research : Frankfurt, Germany. 27-28 October 2016.

artículo científico publicado en 2017

Aminoacylase 1 deficiency associated with autistic behavior

artículo científico publicado en 2010

An international registry for primary ciliary dyskinesia

artículo científico publicado en 2015

Analysis of BRAF V600E mutation in 1,320 nervous system tumors reveals high mutation frequencies in pleomorphic xanthoastrocytoma, ganglioglioma and extra-cerebellar pilocytic astrocytoma

artículo científico publicado en 2011

Axonemal localization of the dynein component DNAH5 is not altered in secondary ciliary dyskinesia

artículo científico publicado en 2006

BRAF gene duplication constitutes a mechanism of MAPK pathway activation in low-grade astrocytomas

artículo científico publicado en 2008

CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms

artículo científico publicado en 2012

CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation

artículo científico publicado en 2014

CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs

artículo científico publicado en 2011

CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module

scientific article published on 02 November 2020

CiliaCarta: An Integrated And Validated Compendium Of Ciliary Genes

article

Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia

artículo científico publicado en 2014

Ciliary function and motor protein composition of human fallopian tubes

artículo científico publicado en 2015

Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules

artículo científico publicado en 2024

Collecting clinical data in primary ciliary dyskinesia- challenges and opportunities

artículo científico publicado en 2016

Comparison of Nocturnal Cough Analysis in Healthy Subjects and in Patients with Cystic Fibrosis and Primary Ciliary Dyskinesia: A Prospective Observational Study

scientific article published on 08 November 2018

Congenital heart disease and other heterotaxic defects in a large cohort of patients with primary ciliary dyskinesia

artículo científico publicado en 2007

DNAH11 Localization in the Proximal Region of Respiratory Cilia Defines Distinct Outer Dynein Arm Complexes

artículo científico publicado en 2016

DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects

artículo científico publicado en 2006

DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm

artículo científico publicado en 2008

DYNC2H1 mutation causes Jeune syndrome and recurrent lung infections associated with ciliopathy.

artículo científico publicado en 2017

DYX1C1 is required for axonemal dynein assembly and ciliary motility

artículo científico publicado en 2013

Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects

artículo científico publicado en 2009

Diagnosis and management of primary ciliary dyskinesia.

artículo científico publicado en 2015

Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies

artículo científico publicado en 2005

Doxycycline accelerates renal cyst growth and fibrosis in the pcy/pcy mouse model of type 3 nephronophthisis, a form of recessive polycystic kidney disease

artículo científico publicado en 2009

Effect of TH2 cytokines and interferon gamma on beat frequency of human respiratory cilia

artículo científico publicado en 2016

European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia

artículo científico publicado en 2016

Evolutionary Proteomics Uncovers Ancient Associations of Cilia with Signaling Pathways

artículo científico publicado en 2017

Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling

artículo científico publicado en 2012

Exploring the Art of Ciliary Beating: The Benefits of High-Speed Video Analysis

artículo científico publicado en 2017

Far lateral supracerebellar infratentorial approach for the treatment of upper brainstem gliomas: clinical experience with pediatric patients

artículo científico publicado en 2005

Functional characterization of a BRAF insertion mutant associated with pilocytic astrocytoma

artículo científico publicado en 2011

Genetic defects in ciliary structure and function

artículo científico publicado en 2007

Heterotaxy and complex structural heart defects in a mutant mouse model of primary ciliary dyskinesia

artículo científico publicado en 2007

High prevalence of respiratory ciliary dysfunction in congenital heart disease patients with heterotaxy

artículo científico publicado en 2012

High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing

article

Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility

article

Identification and analysis of axonemal dynein light chain 1 in primary ciliary dyskinesia patients

scientific journal article

Identification of the human CYS1 gene and candidate gene analysis in Boichis disease ⬇️

artículo científico publicado el 6 de mayo de 2003

Immunofluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects

artículo científico publicado en 2015

Immunofluorescence staining of ciliated respiratory epithelial cells

artículo científico publicado en 2009

Initiation and maturation of cilia-generated flow in newborn and postnatal mouse airway

artículo científico publicado en 2009

Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins

artículo científico publicado en 2008

L1CAM mutation in a boy with hydrocephalus and duplex kidneys

artículo científico publicado en 2007

Lateralization defects and ciliary dyskinesia: lessons from algae

artículo científico publicado en 2003

Lethal phenotype of mice carrying aSept11null mutation ⬇️

artículo científico publicado el 1 de agosto de 2011

Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia

artículo científico publicado en 2008

Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex

scientific journal article

MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia

artículo científico publicado en 2014

Mapping of gene loci for nephronophthisis type 4 and Senior-Løken syndrome, to chromosome 1p36

artículo científico publicado en 2002

Mislocalization of DNAH5 and DNAH9 in respiratory cells from patients with primary ciliary dyskinesia

artículo científico publicado en 2005

Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations

artículo científico publicado en 2010

Multicilin drives centriole biogenesis via E2f proteins

artículo científico publicado en 2014

Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndrome

artículo científico publicado en 2007

Mutation of serine/threonine protein kinase 36 (STK36) causes primary ciliary dyskinesia with a central pair defect

artículo científico publicado en 2017

Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolism

artículo científico publicado en 2006

Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms

Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms

artículo científico publicado en 2013

Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia

artículo científico publicado en 2014

Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry

artículo científico publicado en 2002

Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects

scientific journal article

Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms

artículo científico publicado en 2013

Mutations in TP73 cause impaired mucociliary clearance and lissencephaly

artículo científico publicado en 2021

Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis

artículo científico publicado en 2003

Mutations in antiquitin in individuals with pyridoxine-dependent seizures

scientific journal article

Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia

artículo científico publicado en 2012

Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure

artículo científico publicado en 2012

Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation

artículo científico publicado en 2006

NMR spectroscopy of aminoacylase 1 deficiency, a novel inborn error of metabolism

artículo científico publicado en 2008

NPHP proteins: gatekeepers of the ciliary compartment ⬇️

artículo científico publicado el 6 de septiembre de 2010

Nephrocystin specifically localizes to the transition zone of renal and respiratory cilia and photoreceptor connecting cilia

artículo científico publicado en 2006

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin

artículo científico publicado en 2005

Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: implications for application to clinical testing

artículo científico publicado en 2011

Novel ALG8 mutations expand the clinical spectrum of congenital disorder of glycosylation type Ih.

artículo científico publicado en 2009

Novel integrin-dependent platelet malfunction in siblings with leukocyte adhesion deficiency-III (LAD-III) caused by a point mutation in FERMT3.

artículo científico publicado en 2010

Novel tools to unravel molecular mechanisms in cilia-related disorders

artículo científico publicado en 2006

Nuclear factor I X deficiency causes brain malformation and severe skeletal defects

artículo científico publicado en 2007

Oncogenic FAM131B-BRAF fusion resulting from 7q34 deletion comprises an alternative mechanism of MAPK pathway activation in pilocytic astrocytoma

artículo científico publicado en 2011

Phenotypic Spectrum of Children with Nephronophthisis and Related Ciliopathies

artículo científico publicado en 2017

Phosphorylation by casein kinase 2 induces PACS-1 binding of nephrocystin and targeting to cilia

artículo científico publicado en 2005

Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations

artículo científico publicado en 2008

Primary ciliary dyskinesia in Israel: Prevalence, clinical features, current diagnosis and management practices

artículo científico publicado en 2016

Primary ciliary dyskinesia: clinical presentation, diagnosis and genetics

artículo científico publicado en 2005

Probable Opitz trigonocephaly C syndrome with medulloblastoma

RPGR mutations might cause reduced orientation of respiratory cilia

artículo científico publicado en 2012

Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects

Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry

artículo científico publicado en 2012

SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation

artículo científico publicado en 2015

Structural brain anomalies in patients with FOXG1 syndrome and in Foxg1+/- mice

Study protocol, rationale and recruitment in a European multi-centre randomized controlled trial to determine the efficacy and safety of azithromycin maintenance therapy for 6 months in primary ciliary dyskinesia

artículo científico publicado en 2016

Successful Extracorporeal Life Support in a Pediatric Hematopoietic Stem Cell Transplant Recipient With Periengraftment Respiratory Failure

artículo científico

Systematic Analysis of CCNO Variants in a Defined Population: Implications for Clinical Phenotype and Differential Diagnosis

artículo científico publicado en 2016

TTC25 Deficiency Results in Defects of the Outer Dynein Arm Docking Machinery and Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization

artículo científico publicado en 2016

Target discovery screens using pooled shRNA libraries and next-generation sequencing: A model workflow and analytical algorithm

artículo científico publicado en 2018

The Emerging Genetics of Primary Ciliary Dyskinesia ⬇️

artículo científico publicado el 1 de septiembre de 2011

The Rac1 regulator ELMO controls basal body migration and docking in multiciliated cells through interaction with Ezrin

artículo científico publicado en 2015

The Rac1 regulator ELMO controls basal body migration and docking in multiciliated cells through interaction with Ezrin

artículo científico publicado en 2015

The atypical cadherin Dachsous1 localizes to the base of the ciliary apparatus in airway epithelia

artículo científico publicado en 2016

The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation

artículo científico publicado en 2010

The international primary ciliary dyskinesia cohort (iPCD Cohort): methods and first results

artículo científico publicado en 2017

The molecular basis of aminoacylase 1 deficiency ⬇️

artículo científico publicado el 23 de marzo de 2011

The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans

artículo científico publicado en 2013

The von Hippel-Lindau tumor suppressor protein controls ciliogenesis by orienting microtubule growth

artículo científico publicado en 2006

To beat or not to beat: roles of cilia in development and disease

artículo científico publicado en 2003

Tyrosine kinase 2 is not limiting human antiviral type III interferon responses

artículo científico publicado en 2016

U1 snRNA-mediated gene therapeutic correction of splice defects caused by an exceptionally mild BBS mutation ⬇️

artículo científico publicado el 1 de julio de 2011

ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6

artículo científico publicado en 2013

Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia

artículo científico publicado en 2013

Lista de obras de Heymut Omran

A bumpy road to the diagnosis of a Kytococcus schroeteri shunt infection

A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome

A reach-out system for video microscopy analysis of ciliary motions aiding PCD diagnosis

ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry

Abstracts of the 52nd Workshop for Pediatric Research : Frankfurt, Germany. 27-28 October 2016.

Aminoacylase 1 deficiency associated with autistic behavior

An international registry for primary ciliary dyskinesia

Analysis of BRAF V600E mutation in 1,320 nervous system tumors reveals high mutation frequencies in pleomorphic xanthoastrocytoma, ganglioglioma and extra-cerebellar pilocytic astrocytoma

Axonemal localization of the dynein component DNAH5 is not altered in secondary ciliary dyskinesia

BRAF gene duplication constitutes a mechanism of MAPK pathway activation in low-grade astrocytomas

CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms

CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation

CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs

CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module

CiliaCarta: An Integrated And Validated Compendium Of Ciliary Genes

Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia

Ciliary function and motor protein composition of human fallopian tubes

Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules

Collecting clinical data in primary ciliary dyskinesia- challenges and opportunities

Comparison of Nocturnal Cough Analysis in Healthy Subjects and in Patients with Cystic Fibrosis and Primary Ciliary Dyskinesia: A Prospective Observational Study

Congenital heart disease and other heterotaxic defects in a large cohort of patients with primary ciliary dyskinesia

DNAH11 Localization in the Proximal Region of Respiratory Cilia Defines Distinct Outer Dynein Arm Complexes

DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects

DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm

DYNC2H1 mutation causes Jeune syndrome and recurrent lung infections associated with ciliopathy.

DYX1C1 is required for axonemal dynein assembly and ciliary motility

Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects

Diagnosis and management of primary ciliary dyskinesia.

Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies

Doxycycline accelerates renal cyst growth and fibrosis in the pcy/pcy mouse model of type 3 nephronophthisis, a form of recessive polycystic kidney disease

Effect of TH2 cytokines and interferon gamma on beat frequency of human respiratory cilia

European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia

Evolutionary Proteomics Uncovers Ancient Associations of Cilia with Signaling Pathways

Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling

Exploring the Art of Ciliary Beating: The Benefits of High-Speed Video Analysis

Far lateral supracerebellar infratentorial approach for the treatment of upper brainstem gliomas: clinical experience with pediatric patients

Functional characterization of a BRAF insertion mutant associated with pilocytic astrocytoma

Genetic defects in ciliary structure and function

Heterotaxy and complex structural heart defects in a mutant mouse model of primary ciliary dyskinesia

High prevalence of respiratory ciliary dysfunction in congenital heart disease patients with heterotaxy

High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing

Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility

Identification and analysis of axonemal dynein light chain 1 in primary ciliary dyskinesia patients

Identification of the human CYS1 gene and candidate gene analysis in Boichis disease ⬇️

Immunofluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects

Immunofluorescence staining of ciliated respiratory epithelial cells

Initiation and maturation of cilia-generated flow in newborn and postnatal mouse airway

Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins

L1CAM mutation in a boy with hydrocephalus and duplex kidneys

Lateralization defects and ciliary dyskinesia: lessons from algae

Lethal phenotype of mice carrying aSept11null mutation ⬇️

Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia

Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex

MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia

Mapping of gene loci for nephronophthisis type 4 and Senior-Løken syndrome, to chromosome 1p36

Mislocalization of DNAH5 and DNAH9 in respiratory cells from patients with primary ciliary dyskinesia

Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations

Multicilin drives centriole biogenesis via E2f proteins

Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndrome

Mutation of serine/threonine protein kinase 36 (STK36) causes primary ciliary dyskinesia with a central pair defect

Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolism

Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms

Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms

Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia

Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry

Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects

Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms

Mutations in TP73 cause impaired mucociliary clearance and lissencephaly

Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis

Mutations in antiquitin in individuals with pyridoxine-dependent seizures

Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia

Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure

Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation

NMR spectroscopy of aminoacylase 1 deficiency, a novel inborn error of metabolism

NPHP proteins: gatekeepers of the ciliary compartment ⬇️

Nephrocystin specifically localizes to the transition zone of renal and respiratory cilia and photoreceptor connecting cilia

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin

Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: implications for application to clinical testing

Novel ALG8 mutations expand the clinical spectrum of congenital disorder of glycosylation type Ih.