N. Loges

发表

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

S. Lindberg, H. Omran, W. Sale, 2013, Nature Genetics.

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

H. Omran, P. Pennekamp, I. Amirav, 2017, Human mutation.

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

K. Anderson, R. Geisler, R. Reinhardt, 2011, Nature Genetics.

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

H. Zentgraf, H. Omran, B. Chatterjee, 2009, American journal of physiology. Lung cellular and molecular physiology.

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

H. Omran, M. Hazucha, S. Amselem, 2006, American journal of respiratory and critical care medicine.

DYX1C1 is required for axonemal dynein assembly and ciliary motility

H. Omran, S. Letteboer, R. Roepman, 2013, Nature Genetics.

SPEF2- and HYDIN-mutant Cilia Lack the Central Pair Associated Protein SPEF2 Aiding PCD Diagnostics.

H. Omran, B. Dworniczak, P. Pennekamp, 2019, American journal of respiratory cell and molecular biology.

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

H. Brunner, H. Omran, M. Schmidts, 2018, American journal of human genetics.

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

C. Springer, E. Picard, M. Rotschild, 2016, Respiratory medicine.

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

H. Omran, P. Pennekamp, H. Olbrich, 2014, European Respiratory Journal.

CCDC151 Mutations Cause Primary Ciliary Dyskinesia by Disruption of the Outer Dynein Arm Docking Complex Formation

H. Omran, S. Letteboer, R. Roepman, 2014, American journal of human genetics.

Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia

H. Mussaffi, H. Blau, H. Omran, 2012, Nature Genetics.

Axonemal Localization of the Dynein Component DNAH5 Is Not Altered in Secondary Ciliary Dyskinesia

K. Hörmann, H. Omran, A. Blum, 2006, Pediatric Research.

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

S. Antonarakis, R. Reinhardt, H. Omran, 2006, American journal of respiratory and critical care medicine.

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

H. Mussaffi, H. Blau, R. Reinhardt, 2008, American journal of human genetics.

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

A. Miyawaki, H. Zentgraf, R. Reinhardt, 2008, Nature.

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

A. Schier, R. Reinhardt, H. Omran, 2012, Nature Genetics.

Immunofluorescence staining of ciliated respiratory epithelial cells.

H. Omran, N. Loges, 2009, Methods in cell biology.

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

H. Mussaffi, H. Omran, S. Letteboer, 2020, Nature Communications.

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

H. Mussaffi, H. Omran, M. Schmidts, 2018, American journal of human genetics.

Mutations in C11ORF70 cause primary ciliary dyskinesia with randomization of left/right body asymmetry due to outer and inner dynein arm defects

H. Omran, M. Schmidts, B. Dworniczak, 2017, bioRxiv.

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

R. Durbin, H. Omran, S. Sauer, 2015, American journal of respiratory cell and molecular biology.

Mutations in CCDC39 and CCDC40 are the Major Cause of Primary Ciliary Dyskinesia with Axonemal Disorganization and Absent Inner Dynein Arms

M. Rosenfeld, P. Scambler, H. Omran, 2013, Human mutation.

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

J. Belmont, H. Zentgraf, J. Towbin, 2011, Nature Genetics.

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

H. Zentgraf, R. Reinhardt, H. Omran, 2009, American journal of human genetics.

Ciliary function and motor protein composition of human fallopian tubes.

H. Omran, P. Pennekamp, R. Schmitz, 2015, Human reproduction.

Collecting clinical data in primary ciliary dyskinesia- challenges and opportunities

C. Springer, E. Picard, M. Rotschild, 2016, F1000Research.

Randomization of Left-right Asymmetry and Congenital Heart Defects: The Role of DNAH5 in Humans and Mice.

H. Omran, B. Dworniczak, P. Pennekamp, 2019, Circulation. Genomic and precision medicine.

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

A. Avital, H. Omran, I. Amirav, 2014, Nature Communications.

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

K. Hörmann, H. Omran, A. Blum, 2016, Pediatric Research.

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

G. Pals, H. Omran, M. Schmidts, 2016, American journal of human genetics.

MUTATIONS IN PIH 1 D 3 CAUSE X-LINKED PRIMARY CILIARY DYSKINESIA WITH OUTER AND INNER DYNEIN ARM DEFECTS 3

G. Pals, H. Omran, M. Schmidts, 2017 .

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

J. Lupski, M. Rosenfeld, H. Omran, 2013, American journal of human genetics.

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

A. Avital, H. Mussaffi, H. Omran, 2016, Human mutation.

Recessive HYDIN mutations cause primary ciliary dyskinesia without situs abnomalities

R. Reinhardt, H. Omran, G. Nürnberg, 2012 .

Severe pulmonary disease in an adult primary ciliary dyskinesia population in Brazil

H. Omran, Marcus H. Jones, R. Stelmach, 2019, Scientific Reports.

Mutations in CCDC11, which Encodes a Coiled‐Coil Containing Ciliary Protein, Causes Situs Inversus Due to Dysmotility of Monocilia in the Left–Right Organizer

H. Omran, Sudipto Roy, P. Pennekamp, 2015, Human mutation.

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

H. Omran, P. Pennekamp, J. Altmüller, 2015, American journal of human genetics.

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

H. Omran, F. Alkuraya, P. Pennekamp, 2014, Nature Genetics.

Immunofluorescence analysis and diagnosis of primary ciliary dyskinesia with radial spoke defects

H. Omran, M. Boon, Y. Memari, 2015 .

The BEAT-PCD (Better Experimental Approaches to Treat Primary Ciliary Dyskinesia) Clinical Research Collaboration

N. Loges, A. Shoemark, M. Goutaki, 2021, European Respiratory Journal.

DNAI 2 mutations can cause primary ciliary dyskinesia with outer dynein arm defects

Chung, H. Blau, R. Reinhardt, 2009 .

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

Emily H Turner, J. Shendure, D. Nickerson, 2013, American journal of human genetics.

ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6.

M. Rosenfeld, S. Levy, H. Omran, 2013, American journal of human genetics.

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

M. Hurles, R. Reinhardt, H. Omran, 2012, American journal of human genetics.

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

M. Rosenfeld, H. Omran, M. Hazucha, 2011, Thorax.

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

O. Ronneberger, H. Omran, G. Walz, 2015, Development.

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O. Ronneberger, H. Omran, G. Walz, 2014 .

Motility of efferent duct cilia aids passage of sperm cells through the male reproductive system

H. Omran, P. Pennekamp, H. Olbrich, 2021, Molecular human reproduction.

De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry.

H. Omran, A. Brentrup, S. Dutcher, 2019, American journal of human genetics.

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

R. Durbin, J. Wallingford, H. Omran, 2016, American journal of human genetics.

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

S. Mundlos, S. Antonarakis, B. Niggemann, 2008, Human mutation.

CCDC151 Mutations Cause Primary Ciliary Dyskinesia by Disruption of the Outer Dynein Arm Docking Complex Formation

H. Omran, S. Letteboer, R. Roepman, 2014, American Journal of Human Genetics.

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

H. Omran, S. Letteboer, R. Roepman, 2018, PLoS genetics.

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

R. Durbin, H. Omran, N. Katsanis, 2016, American journal of respiratory cell and molecular biology.

Dynein Dysfunction as a Cause of Primary Ciliary Dyskinesia and Other Ciliopathies

H. Omran, N. Loges, A. Becker-Heck, 2012 .

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

M. Rosenfeld, H. Omran, T. Hurd, 2013, American journal of human genetics.

Defects in the cytoplasmic assembly of axonemal dynein arms cause morphological abnormalities and dysmotility in sperm cells leading to male infertility

H. Omran, P. Pennekamp, H. Olbrich, 2021, PLoS genetics.

RPGR mutations might cause reduced orientation of respiratory cilia

E. Haan, H. Omran, W. Berger, 2013, Pediatric pulmonology.

Generation of induced pluripotent stem cell lines from a Crisponi/Cold induced sweating syndrome type 1 individual.

H. Omran, A. Röpke, L. Crisponi, 2020, Stem cell research.

Mutations in ACY 1 , the Gene Encoding Aminoacylase 1 , Cause a Novel Inborn Error of Metabolism

H. Omran, A. Kispert, U. Engelke, 2007 .

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

H. Omran, A. Kispert, U. Engelke, 2006, American journal of human genetics.

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

O. Ronneberger, H. Omran, G. Walz, 2015, Development.

Lethal phenotype of mice carrying a Sept11 null mutation

H. Omran, N. Loges, B. Zieger, 2011, Biological chemistry.

Primary Ciliary Dyskinesia.

H. Omran, P. Pennekamp, H. Olbrich, 2023, Presse medicale.

A mutation in the zebrafish Na,K‐ATPase subunit atp1a1a.1 provides genetic evidence that the sodium potassium pump contributes to left‐right asymmetry downstream or in parallel to nodal flow

W. Driever, R. Nitschke, F. Biemar, 2006, Developmental dynamics : an official publication of the American Association of Anatomists.

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

H. Omran, P. Pennekamp, J. Altmüller, 2015, American journal of human genetics.

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

M. Rosenfeld, H. Omran, T. Hurd, 2013, American journal of human genetics.