| 1. |
- Dahan-Oliel, N., et al.
(författare)
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International multidisciplinary collaboration toward an annotated definition of arthrogryposis multiplex congenita
- 2019
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Ingår i: American Journal of Medical Genetics Part C-Seminars in Medical Genetics. - : Wiley. - 1552-4868 .- 1552-4876. ; 181:3, s. 288-299
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Tidskriftsartikel (refereegranskat)abstract
- Arthrogryposis multiplex congenita (AMC) has been described and defined in thousands of articles, but the terminology used has been inconsistent in clinical and research communities. A definition of AMC was recently developed using a modified Delphi consensus method involving 25 experts in the field of AMC from 8 countries. Participants included health care professionals, researchers, and individuals with AMC. An annotation of the definition provides more in-depth explanations of the different sentences of the AMC definition and is useful to complement the proposed definition. The aim of this study was to provide an annotation of the proposed consensus-based AMC definition. For the annotation process, 17 experts in AMC representing 10 disciplines across 7 countries participated. A paragraph was developed for each sentence of the definition using an iterative process involving multiple authors with varied and complementary expertise, ensuring all points of view were taken into consideration. The annotated definition provides an overview of the different topics related to AMC and is intended for all stakeholders, including youth and adults with AMC, their families, and clinicians and researchers, with the hopes of unifying the understanding of AMC in the international community.
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| 2. |
- Dai, F., et al.
(författare)
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The Discovery and Mass Measurement of a New Ultra-short-period Planet: K2-131
- 2017
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Ingår i: Astronomical Journal. - : American Astronomical Society. - 1538-3881 .- 0004-6256. ; 154:6, s. 226-
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Tidskriftsartikel (refereegranskat)abstract
- We report the discovery of a new ultra-short-period planet and summarize the properties of all such planets for which the mass and radius have been measured. The new planet, EPIC 228732031b, was discovered in K2 Campaign 10. It has a radius of 1.81-0.12+0.16 R_Earth and orbits a G dwarf with a period of 8.9 hr. Radial velocities obtained with Magellan/PFS and TNG/HARPS-N show evidence for stellar activity along with orbital motion. We determined the planetary mass using two different methods: (1) the “floating chunk offset” method, based only on changes in velocity observed on the same night; and (2) a Gaussian process regression based on both the radial velocity and photometric time series. The results are consistent and lead to a mass measurement of 6.5+/- 1.6 M_Earth and a mean density of 6.0-2.7+3.0 g cm‑3.
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| 3. |
- Dieterich, K., et al.
(författare)
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Central nervous system involvement in arthrogryposis multiplex congenita: Overview of causes, diagnosis, and care
- 2019
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Ingår i: American Journal of Medical Genetics Part C-Seminars in Medical Genetics. - : Wiley. - 1552-4868 .- 1552-4876.
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Tidskriftsartikel (refereegranskat)abstract
- Arthrogryposis or AMC, arthrogryposis multiplex congenita, is defined as multiple congenital joint contractures in more than two joints and in different body areas. The common cause of all AMC is lack of movement in utero, which in turn can have different causes, one of which is CNS involvement. Intellectual disability/CNS involvement is found in approximately 25% of all AMC. AMC with CNS involvement includes a large number of genetic syndromes. So far, more than 400 genes have been identified as linked to AMC, with and without CNS involvement. A number of neonatally lethal syndromes and syndromes resulting in severe disability due to CNS malfunction belong to this group of syndromes. There are several X-linked disorders with AMC, which are primarily related to intellectual disability. A number of neuromuscular disorders may include AMC and CNS/brain involvement. Careful clinical evaluation by a geneticist and a pediatrician/pediatric neurologist is the first step in making a specific diagnosis. Further investigations may include MRI of the brain and spinal cord, electroencephalogram, blood chemistry for muscle enzymes, other organ investigations (ophtalmology, cardiology, gastrointestinal, and genitourinary systems). Nerve conduction studies, electromyogram, and muscle pathology may be of help when there is associated peripheral nervous system involvement. But most importantly, genetic investigations with targeted or rather whole exome or genome sequencing should be performed. A correct diagnosis is important in planning adequate treatment, in genetic counselling and also for future understanding of pathogenic mechanisms and possible new treatments. A multidiciplinary team is needed both in investigation and treatment.
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| 4. |
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| 5. |
- Hall, J. G., et al.
(författare)
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Classification of arthrogryposis
- 2019
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Ingår i: American Journal of Medical Genetics, Part C: Seminars in Medical Genetics. - : Wiley. - 1552-4868 .- 1552-4876. ; 181:3, s. 300-303
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Tidskriftsartikel (refereegranskat)abstract
- There is a need for a system to classify various forms of arthrogryposis. None is satisfactory or complete. Nevertheless, several have been developed to meet the needs of clinicians, prenatal diagnosticians, researchers, and basic scientists. They all await more insight into basic mechanisms. © 2019 Wiley Periodicals, Inc.
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| 6. |
- Mourier, A, et al.
(författare)
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Mitofusin 2 is required to maintain mitochondrial coenzyme Q levels
- 2015
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Ingår i: The Journal of cell biology. - : Rockefeller University Press. - 1540-8140 .- 0021-9525. ; 208:4, s. 429-442
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Tidskriftsartikel (refereegranskat)abstract
- Mitochondria form a dynamic network within the cell as a result of balanced fusion and fission. Despite the established role of mitofusins (MFN1 and MFN2) in mitochondrial fusion, only MFN2 has been associated with metabolic and neurodegenerative diseases, which suggests that MFN2 is needed to maintain mitochondrial energy metabolism. The molecular basis for the mitochondrial dysfunction encountered in the absence of MFN2 is not understood. Here we show that loss of MFN2 leads to impaired mitochondrial respiration and reduced ATP production, and that this defective oxidative phosphorylation process unexpectedly originates from a depletion of the mitochondrial coenzyme Q pool. Our study unravels an unexpected and novel role for MFN2 in maintenance of the terpenoid biosynthesis pathway, which is necessary for mitochondrial coenzyme Q biosynthesis. The reduced respiratory chain function in cells lacking MFN2 can be partially rescued by coenzyme Q10 supplementation, which suggests a possible therapeutic strategy for patients with diseases caused by mutations in the Mfn2 gene.
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| 7. |
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