KOL | Hannah M MitchisonClinical Genetics and Genomics, Royal Brompton Hospital, Guy's and St. Thomas' NHS Foundation Trust and NHLI, Imperial College London, UK. | Authors contributed equally to ... |
KOL Resume for Hannah M Mitchison
| Year | |
|---|---|
| 2022 | Clinical Genetics and Genomics, Royal Brompton Hospital, Guy's and St. Thomas' NHS Foundation Trust and NHLI, Imperial College London, UK. Authors contributed equally to this manuscript. |
| 2021 | Ciliary Disease Section, Genetics and Genomic Medicine Research and Teaching Dept, UCL Great Ormond Street Institute of Child Health, London, UK H.M. Mitchison and J.S. Lucas contributed equally to this article as lead authors and supervised the work Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom |
| 2020 | Genetics and Genomic Medicine, University College London, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK; NIHR Biomedical Research Centre at Great Ormond Street Hospital, London, UK. Electronic address: NIHR Great Ormond Street Hospital Biomedical Research Centre, London, United Kingdom. |
| 2019 | Genetics and Genomic Medicine, University College London (UCL) Great Ormond Street Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK |
| 2018 | Both authors contributed equally Genetics and Genomic Medicine, University College London (UCL) Great Ormond Street Institute of Child Health, London, UK. University College London, UCL Great Ormond Street Institute of Child Health, London, United Kingdom |
| 2017 | Christopher O'Callaghan BMed Sci BMBS FRCPCH PhD DM Professor of Respiratory and Paediatric Medicine and Head of Respiratory, Critical Care and Anaesthesia, UCL Great Ormond Street Hospital Institute of Child Health, London, Centre for PCD Diagnosis and Research, Department of Infection, Immunity and Inflammation, RKCSB, University of Leicester, Leicester, UK. Conflict of interest: none declared Genetics and Genomic Medicine Programme, UCL Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK |
| 2016 | Genetics and Genomic Medicine Programme University College London, UCL Great Ormond Street Institute of Child Health London UK |
| 2015 | Molecular Medicine Unit and Birth Defect Research Center, University College London, London, UK |
| 2014 | Genetics and Genomic Medicine, UCL Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK Molecular Medicine Unit and Birth Defect Research Center, Institute of Child Health, University College London, London, United Kingdom. |
| 2013 | Molecular Medicine Unit and Birth Defects Research Centre, Institute of Child Health, University College London (UCL), London WC1N 1EH, UK |
| 2012 | Genome Centre Cologne at MPI for Plant Breeding Research, Köln, Germany Molecular Medicine Unit, University College London, Institute of Child Health, London, UK |
| 2011 | Department of Paediatrics and Child Health, Royal Free and University College Medical School, London, UK |
| 2010 | Molecular Medicine Unit, University College London (UCL), Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK |
| 2009 | From the *Department of Paediatric Respiratory, Royal Brompton Hospital, London, United Kingdom; †Molecular Medicine Unit, University College London (UCL), Institute of Child Health, London, United Kingdom; and ‡Department of Host Defence, Royal Brompton Hospital, London, United Kingdom. General and Adolescent Paediatric Unit, University College London (UCL) Institute of Child Health, Rayne Building, 5 University Street, London WC1E 6JJ, UK |
| 2008 | Molecular Medicine Unit, University College London (UCL) Institute of Child Health , London WC1N 1EH , UK |
| 2007 | General and Adolescent Paediatric Unit, UCL Institute of Child Health, London, UK |
| 2006 | The Royal Free Hospital, London, UK Department of Paediatrics and Child Health, Royal Free and University College London Medical School, London, United Kingdom |
| 2005 | Department of Paediatrics and Child Health, Royal Free and University College Medical School, Rayne Building, University Street, London WC1E 6JJ, United Kingdom |
| 2004 | Department of Paediatrics and Child Health, Royal Free and University College Medical School, 4th Floor, Rayne Building, 5 University Street, London, WC1E 6JJ, UK |
| 2003 | Department of Paediatrics and Child Health, Royal Free and University College London Medical School, London WC1E 655, UK |
| 2002 | Department of Pediatrics and Child Health, Royal Free and University College Medical School, University College London, London NW3 2QG, United Kingdom |
| 2001 | Department of Paediatrics, Royal Free and University College Medical School, London, UK |
| 2000 | Division of Medical Genetics, University of Geneva Medical School and Cantonal Hospital (Switzerland);, Department of Pediatrics, Royal Free and University College Medical School, University College London (UK) |
| 1999 | From the BioMag Laboratory, Medical Engineering Center (Dr. Lauronen), Departments of Radiology (Drs. Lauronen, Autti, and Häkkinen) and Pediatric Neurology, Hospital for Children and Adolescents (Drs. Puranen, Kirveskari, and Santavuori), Helsinki University Central Hospital, Finland; the Laboratory of Human Molecular Genetics (Dr. Järvelä), National Public Health Institute, Helsinki, Finland; and the Department of Pediatrics (Drs. Munroe, Mitchison, O'Rawe, Gardiner, and Mole), University College London Medical School, The Rayne Institute, London, England. Department of Paediatrics, University College London Medical School, London, WC1E 6JJ, United Kingdom |
| 1997 | Department of Paediatrics, University College London Medical School, The Rayne Institute, University Street, London, WC1E 6JJ, United Kingdom |
| 1996 | Department of Pediatrics, University College London Medical School, Rayne Institute, University Street, London, WC1E 6JJ, U.K. |
Hannah M Mitchison: Influence Statistics
| Concept | World rank |
|---|---|
| cln3deltaex16 mouse | #1 |
| c11orf70 iftdependant assembly | #1 |
| genotype patients pcd | #1 |
| axonemal dyneins life | #1 |
| ciliary features | #1 |
| cln3deltaex16 mutation | #1 |
| roles motile | #1 |
| genetic dissection diagnosis | #1 |
| c11orf70 essential | #1 |
| debilitating disease morbidities | #1 |
| earlier treatment symptoms | #1 |
| nonmotile cilia dysfunction | #1 |
| syndromes jeune | #1 |
| destructive respiratory disease | #1 |
| underlying jncl disease | #1 |
| cartilage degradation loading | #1 |
| mice batten | #1 |
| pcd inherited | #1 |
| batten finnish | #1 |
| sylva sylvarum | #1 |
| dyskinesia defects | #1 |
| idaoda | #1 |
| pcd sanger | #1 |
| cilia physics | #1 |
| ncl haltia | #1 |
| rare respiratory | #1 |
| limitations surrounding diagnosis | #1 |
| cln3deltaex16 mouse brain | #1 |
| diagnostic workflow pcd | #1 |
| chain dnah9 | #1 |
| loading hdac6 | #1 |
| his154pro mutation | #1 |
| ciliary intraflagellar transport | #1 |
| rgmc cph | #1 |
| range inherited mutations | #1 |
| situs abnormalities patients | #1 |
| loading tubulin acetylation | #1 |
| pcd genetic testing | #1 |
| gene dnah11 | #1 |
| hdac6 ift | #1 |
| disease arylsulfotransferase | #1 |
| 50 pcd genes | #1 |
| subject carrying mutations | #1 |
| ubiquity multisystem involvement | #1 |
| genomes project cilia | #1 |
Open the FULL List in Excel | |
Prominent publications by Hannah M Mitchison
Primary ciliary dyskinesia (PCD; MIM 242650) is an autosomal recessive disorder of ciliary dysfunction with extensive genetic heterogeneity. PCD is characterized by bronchiectasis and upper respiratory tract infections, and half of the patients with PCD have situs inversus (Kartagener syndrome). We characterized the transcript and the genomic organization of the axonemal heavy chain dynein type 11 (DNAH11) gene, the human homologue of murine Dnah11 or lrd, which is mutated in the iv/iv ...
| Known for Situs Inversus | Dnah11 Gene | Ciliary Dyskinesia | Human Pair | Heavy Chain |
RATIONALE: Primary ciliary dyskinesia (PCD) is a rare, usually autosomal recessive, genetic disorder characterized by ciliary dysfunction, sino-pulmonary disease, and situs inversus. Disease-causing mutations have been reported in DNAI1 and DNAH5 encoding outer dynein arm (ODA) proteins of cilia.
OBJECTIVES: We analyzed DNAI1 to identify disease-causing mutations in PCD and to determine if the previously reported IVS1+2_3insT (219+3insT) mutation represents a "founder" or "hot spot" ...
| Known for Ciliary Dyskinesia | Mutations Dnai1 | Patients Pcd | Polymerase Chain | Dyneins Child |
Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans
[ PUBLICATION ]
Intraflagellar transport (IFT) depends on two evolutionarily conserved modules, subcomplexes A (IFT-A) and B (IFT-B), to drive ciliary assembly and maintenance. All six IFT-A components and their motor protein, DYNC2H1, have been linked to human skeletal ciliopathies, including asphyxiating thoracic dystrophy (ATD; also known as Jeune syndrome), Sensenbrenner syndrome, and Mainzer-Saldino syndrome (MZSDS). Conversely, the 14 subunits in the IFT-B module, with the exception of IFT80, have ...
| Known for Signaling Peptides | Ift172 Ift | Jeune Syndrome | Intraflagellar Transport | Thoracic Dystrophy |
DNAI2 Mutations Cause Primary Ciliary Dyskinesia with Defects in the Outer Dynein Arm
[ PUBLICATION ]
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder characterized by chronic destructive airway disease and randomization of left/right body asymmetry. Males often have reduced fertility due to impaired sperm tail function. The complex PCD phenotype results from dysfunction of cilia of the airways and the embryonic node and the structurally related motile sperm flagella. This is associated with underlying ultrastructural defects that frequently involve the outer ...
| Known for Primary Ciliary | Dynein Arm | Oda Defects | Respiratory Cilia | Dnai2 Mutations |
CCDC151 Mutations Cause Primary Ciliary Dyskinesia by Disruption of the Outer Dynein Arm Docking Complex Formation
[ PUBLICATION ]
A diverse family of cytoskeletal dynein motors powers various cellular transport systems, including axonemal dyneins generating the force for ciliary and flagellar beating essential to movement of extracellular fluids and of cells through fluid. Multisubunit outer dynein arm (ODA) motor complexes, produced and preassembled in the cytosol, are transported to the ciliary or flagellar compartment and anchored into the axonemal microtubular scaffold via the ODA docking complex (ODA-DC) ...
| Known for Ciliary Dyskinesia | Docking Complex | Dynein Arm | Ccdc151 Mutations | Laterality Defects |
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous inherited disorder arising from dysmotility of motile cilia and sperm. This is associated with a variety of ultrastructural defects of the cilia and sperm axoneme that affect movement, leading to clinical consequences on respiratory-tract mucociliary clearance and lung function, fertility, and left-right body-axis determination. We performed whole-genome SNP-based linkage analysis in seven consanguineous families with PCD ...
| Known for Ciliary Dyskinesia | Radial Spoke | Gene Expression | Head Protein | Central Pair |
Primary ciliary dyskinesia (PCD) is an inherited chronic respiratory obstructive disease with randomized body laterality and infertility, resulting from cilia and sperm dysmotility. PCD is characterized by clinical variability and extensive genetic heterogeneity, associated with different cilia ultrastructural defects and mutations identified in >20 genes. Next generation sequencing (NGS) technologies therefore present a promising approach for genetic diagnosis which is not yet in ...
| Known for Electron Microscopy | Central Pair | Radial Spoke | Mutations Rsph1 | Primary Ciliary |
A subtype of neuronal ceroid lipofuscinosis (NCL) is well recognized which has a clinical course consistent with juvenile NCL (JNCL) but the ultrastructural characteristics of infantile NCL (INCL): granular osmiophilic deposits (GROD). Evidence supporting linkage of this phenotype, designated vJNCL/GROD, to the INCL region of chromosome 1p32 was demonstrated (pairwise lod score with D1S211 , Z max = 2.63, straight theta = 0.00). The INCL gene, palmitoyl-protein thioesterase (PPT ; CLN1), ...
| Known for Granular Osmiophilic Deposits | Neuronal Ceroid Lipofuscinosis | Mutations Ppt | Protein Thioesterase | Missense Mutation |
BACKGROUND: Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous ciliopathy disorder affecting cilia and sperm motility. A range of ultrastructural defects of the axoneme underlie the disease, which is characterised by chronic respiratory symptoms and obstructive lung disease, infertility and body axis laterality defects. We applied a next-generation sequencing approach to identify the gene responsible for this phenotype in two consanguineous families.
METHODS AND ...
| Known for Primary Ciliary Dyskinesia | Genome Sequencing | Outer Dynein | Armc4 Protein | Consanguineous Families |
Primary ciliary dyskinesia (PCD) is a ciliopathy characterized by airway disease, infertility, and laterality defects, often caused by dual loss of the inner dynein arms (IDAs) and outer dynein arms (ODAs), which power cilia and flagella beating. Using whole-exome and candidate-gene Sanger resequencing in PCD-affected families afflicted with combined IDA and ODA defects, we found that 6/38 (16%) carried biallelic mutations in the conserved zinc-finger gene BLU (ZMYND10). ZMYND10 ...
| Known for Outer Dynein Arms | Primary Ciliary Dyskinesia | Motile Cilia | Laterality Defects | Drosophila Zmynd10 |
Functional categorization of gene expression changes in the cerebellum of a Cln3-knockout mouse model for Batten disease
[ PUBLICATION ]
Juvenile neuronal ceroid lipofuscinosis (JNCL or Batten Disease) is the most common progressive neurodegenerative disorder of childhood. The disease is inherited in an autosomal recessive manner and is the result of mutations in the CLN3 gene. One brain region severely affected in Batten disease is the cerebellum. Using a mouse model for Batten disease which shares pathological similarities to the disease in humans we have used oligonucleotide arrays to profile approximately 19000 mRNAs ...
| Known for Batten Disease | Gene Expression | Mouse Model | Mice Knockout | Cerebellum Cln3 |
Batten disease gene, CLN3: linkage disequilibrium mapping in the Finnish population, and analysis of European haplotypes.
[ PUBLICATION ]
The gene for Batten disease (juvenile-onset neuronal ceroid lipofuscinosis, or Spielmeyer-Sjögren disease), CLN3, maps to 16p11.2-12.1. Four microsatellite markers--D16S288, D16S299, D16S298, and SPN--are in strong linkage disequilibrium with CLN3 in 142 families from 16 different countries. These markers span a candidate region of approximately 2.1 cM. CLN3 is most prevalent in northern European populations and is especially enriched in the isolated Finnish population, with an incidence ...
| Known for Batten Disease | Linkage Disequilibrium | Finnish Population | Lod Score | Candidate Region |
Recessive HYDIN Mutations Cause Primary Ciliary Dyskinesia without Randomization of Left-Right Body Asymmetry
[ PUBLICATION ]
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous recessive disorder characterized by defective cilia and flagella motility. Chronic destructive-airway disease is caused by abnormal respiratory-tract mucociliary clearance. Abnormal propulsion of sperm flagella contributes to male infertility. Genetic defects in most individuals affected by PCD cause randomization of left-right body asymmetry; approximately half show situs inversus or situs ambiguous. Almost 70 years after ...
| Known for Primary Ciliary | Body Asymmetry | Hydin Mutations | Situs Inversus | Sperm Flagella |
Retinal Pathology and Function in a Cln3 Knockout Mouse Model of Juvenile Neuronal Ceroid Lipofuscinosis (Batten Disease)
[ PUBLICATION ]
Batten disease or JNCL, is the juvenile form of Neuronal Ceroid Lipofuscinosis (NCL) an autosomal recessive neurodegenerative disorder. Since retinal degeneration is an early consequence of Batten disease, we examined the eyes of Cln3 knockout mice (1-20 months of age), along with heterozygotes and appropriate controls, to determine whether or not the Cln3 defect would lead to characteristic retinal degeneration and visual loss. Accumulation of autofluorescent material and intracellular ...
| Known for Batten Disease | Neuronal Ceroid Lipofuscinosis | Mouse Model | Cln3 Knockout | Retinal Degeneration |
Key People For Primary Ciliary Dyskinesia
Hannah M Mitchison:Expert Impact
Concepts for whichHannah M Mitchisonhas direct influence:Primary ciliary dyskinesia, Batten disease, Ciliary dyskinesia, Primary ciliary, Neuronal ceroid, Thoracic dystrophy, Human pair, Mouse model.
Hannah M Mitchison:KOL impact
Concepts related to the work of other authors for whichfor which Hannah M Mitchison has influence:Primary ciliary dyskinesia, Batten disease, Neuronal ceroid, Motile cilia, Male infertility, Uk biobank, Exome sequencing.
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