613 research outputs found
Autosomal recessive stickler syndrome due to a loss of function mutation in theCOL9A3gene
No full textStickler syndrome (STL) is a clinically variable and genetically heterogeneous syndrome characterized by ophthalmic, articular, orofacial, and auditory manifestations. STL has been described with both autosomal dominant and recessive inheritance. The dominant form is caused by mutations of COL2A1 (STL 1, OMIM 108300), COL11A1 (STL 2, OMIM 604841), and COL11A2 (STL 3, OMIM 184840) genes, while recessive forms have been associated with mutations of COL9A1 (OMIM 120210) and COL9A2 (OMIM 120260) genes. Type IX collagen is a heterotrimeric molecule formed by three genetically distinct chains: α1, α2, and α3 encoded by the COL9A1, COL9A2, and COL9A3 genes. Up to this time, only heterozygous mutations of COL9A3 gene have been reported in human and related to: (1) multiple epiphyseal dysplasia type 3, (2) susceptibility to an intervertebral disc disease, and (3) hearing loss. Here, we describe the first autosomal recessive Stickler family due to loss of function mutations (c.1176_1198del, p.Gln393Cysfs*25) of COL9A3 gene. These findings extend further the role of collagen genes family in the disease pathogenesis
Rare GNAO1 Variant Presenting with Deep Brain Stimulation ‐Responsive Jaw‐Opening Dystonia
No full textSpinocerebellar Ataxia Type 35 Caused by a New TGM6 Variant: Video Documentation of a German Family
No full textCharacterization of interfaces in polymer bilayers and FDM 3D printed parts using atomic force microscopy
No full textAuthor Saskia Dollberger, BSc.Masterarbeit Universität Linz 2022Arbeit auf den öffentlichen PCs in den Bibliotheken der JKU+Medizin abrufba
Characterization of interfaces in polymer bilayers and FDM 3D printed parts using atomic force microscopy
No full textAuthor Saskia Dollberger, BSc.Masterarbeit Universität Linz 2022Arbeit auf den öffentlichen PCs in den Bibliotheken der JKU+Medizin abrufba
Blockchain-based business models in the financial industry in German-speaking countries
No full textAuthor Saskia KohlerMasterarbeit Universität Linz 2023Arbeit auf den öffentlichen PCs in den Bibliotheken der JKU+Medizin abrufba
Saskia Sassen: Dressed in Wall Street suits & algorithmic math: assemblages of complex predatory formations
No full textROBERT S. LYND PROFESSOR OF SOCIOLOGY
DEPARTMENT OF SOCIOLOGY AND COMMITTEE ON GLOBAL THOUGHT
COLUMBIA UNIVERSITY
Saskia Sassen is the Robert S. Lynd Professor of Sociology at Columbia University and a Member of its Committee on Global Thought, which she chaired until 2015. She is a student of cities, immigration, and states in the world economy, with inequality, gendering, and digitization as three key variables running through her work. Born in the Netherlands, she grew up in Argentina and Italy, studied in France, was raised in five languages, and began her professional life in the United States. She is the author of eight books and the editor or co-editor of three books. Together, her authored books are translated into over twenty languages. She has received many awards and honors, among them multiple doctor honoris causa, the 2013 Principe de Asturias Prize in the Social Sciences, election to the Royal Academy of the Sciences of the Netherlands, and was made a Chevalier de l'Ordre des Arts et Lettres by the French government
Diagnostic Yield of Targeted Hearing Loss Gene Panel Sequencing in a Large German Cohort With a Balanced Age Distribution from a Single Diagnostic Center: An Eight-year Study
No full textFrom ventriculomegaly to severe muscular atrophy: Expansion of the clinical spectrum related to mutations in AIFM1
No full textThe apoptosis-inducing factor (AIF) functions as a FAD-dependent NADH oxidase in mitochondria. Upon apoptotic stimulation it is released from mitochondria and migrates to the nucleus where it induces chromatin condensation and DNA fragmentation. So far mutations in AIFM1, a X-chromosomal gene coding for AIF, have been described in three families with 11 affected males. We report here on a further patient thereby expanding the clinical and mutation spectrum. In addition, we review the known phenotypes related to AIFM1 mutations. The clinical course in the male patient described here was characterized by phases with rapid deterioration and long phases without obvious progression of disease. At age 2.5 years he developed hearing loss and severe ataxia and at age 10 years muscle wasting, swallowing difficulties, respiratory insufficiency and external opthamoplegia. By next generation sequencing of whole exome we identified a hemizygous missense mutation in the AIFM1 gene, c.727G>T (p.Va1243Leu) affecting a highly conserved residue in the FAD-binding domain. Summarizing what is known today, mutations in AIFM1 are associated with a progressive disorder with myopathy, ataxia and neuropathy. Severity varies greatly even within one family with onset of symptoms between birth and adolescence. 3 of 12 patients died before age 5 years while others were still able to walk during young adulthood. Less frequent symptoms were hearing loss, seizures and psychomotor regression. Results from clinical chemistry, brain imaging and muscle biopsy were unspecific and inconsistent. (C) 2015 Elsevier B.V. and Mitochondria Research Society. All rights reserved
Prenatal diagnosis of diaphanospondylodysostosis (DSD): a case report.
Full text linkWe present a case of diaphanospondylodysostosis (DSD) which showed increased nuchal translucency at 1st trimester and missing ossification of the lower spine, short ribs with posterior gaps, and absent nasal bone in midtrimester. Autopsy revealed additionally bilateral nephroblastomatosis. Molecular genetic analysis showed a new mutation in the BMPER gene
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