List of works - Heike Olbrich

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

scientific article

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

scientific article

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

scientific article published on May 2008

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

scientific article

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

scientific article

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

scientific article published on 3 September 2014

Ciliary function and motor protein composition of human fallopian tubes

scientific article published on 15 September 2015

Collecting clinical data in primary ciliary dyskinesia- challenges and opportunities

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 12 March 2017

DYX1C1 is required for axonemal dynein assembly and ciliary motility

scientific article

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

scientific article

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

scientific article published on 21 April 2009

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

scientific article

Functional characterization of a BRAF insertion mutant associated with pilocytic astrocytoma

scientific article published on 25 July 2011

Habituation of the nociceptive flexion reflex is dependent on inter-stimulus interval and stimulus intensity

scientific article published on 6 April 2013

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 ⬇️

scientific article published on May 6, 2003

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

scientific article published on 19 March 2015

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 23 May 2017

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 19 September 2013

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

scientific article

Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 20 March 2011

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

scientific article

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

scientific article

RPGR mutations might cause reduced orientation of respiratory cilia

scientific article published on 6 August 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

scientific article

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

scientific article published on 17 January 2016

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

scientific article published on August 2016

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

scientific article

The molecular basis of aminoacylase 1 deficiency ⬇️

scientific article published on March 23, 2011

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

scientific article

ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6

scientific article

List of works by Heike Olbrich

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

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

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

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

Ciliary function and motor protein composition of human fallopian tubes

Collecting clinical data in primary ciliary dyskinesia- challenges and opportunities

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

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

Functional characterization of a BRAF insertion mutant associated with pilocytic astrocytoma

Habituation of the nociceptive flexion reflex is dependent on inter-stimulus interval and stimulus intensity

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

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

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

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

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

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

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

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

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

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

RPGR mutations might cause reduced orientation of respiratory cilia

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

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

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

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

The molecular basis of aminoacylase 1 deficiency ⬇️

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

ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6