Kurth, Ingo 1974-
Ingo Kurth researcher
VIAF ID: 18171105 (Personal)
Permalink: http://viaf.org/viaf/18171105
Preferred Forms
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100 0 _ ‡a Ingo Kurth ‡c researcher
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100 1 _ ‡a Kurth, Ingo ‡d 1974-
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100 1 _ ‡a Kurth, Ingo ‡d 1974-
4xx's: Alternate Name Forms (1)
5xx's: Related Names (4)
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Aachen, Techn. Hochsch
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Universitätsklinikum Hamburg-Eppendorf
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affi
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https://d-nb.info/standards/elementset/gnd#affiliation
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Affiliation
- 510 2 _
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Universitätsklinikum Jena
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Institut für Humangenetik
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affi
‡4
https://d-nb.info/standards/elementset/gnd#affiliation
‡e
Affiliation
- 510 2 _
‡a
Universitätsklinikum Hamburg-Eppendorf
Works
Title | Sources |
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Analysis of rare APC variants at the mRNA level: six pathogenic mutations and literature review |
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ARL6IP1 in endoplasmic reticulum homeostasis and axonal maintenance |
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Auswirkungen ausgewählter REEP1-Mutationen auf das Spleißen von prä-mRNA |
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CLCN7 and TCIRG1 mutations differentially affect bone matrix mineralization in osteopetrotic individuals |
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Cold-aggravated pain in humans caused by a hyperactive NaV1.9 channel mutant |
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A de novo gain-of-function mutation in SCN11A causes loss of pain perception |
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DEGS1-associated aberrant sphingolipid metabolism impairs nervous system function in humans |
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Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly |
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Different epitopes are required for gp130 activation by interleukin-6, oncostatin M and leukemia inhibitory factor |
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A disease causing ATLASTIN 3 mutation affects multiple endoplasmic reticulum-related pathways |
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Duplications of noncoding elements 5' of SOX9 are associated with brachydactyly-anonychia. |
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Familial NEDD4L variant in periventricular nodular heterotopia and in a fetus with hypokinesia and flexion contractures |
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The forkhead transcription factor Foxi1 directly activates the AE4 promoter |
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Formation of new chromatin domains determines pathogenicity of genomic duplications |
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A functional role of the membrane-proximal extracellular domains of the signal transducer gp130 in heterodimerization with the leukemia inhibitory factor receptor |
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Generation of in vitro and in vivo models to study pain perception disorders using genome editing |
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Generation of two induced pluripotent stem cell lines from skin fibroblasts of sisters carrying a c.1094C>A variation in the SCN10A gene potentially associated with small fiber neuropathy |
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The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME |
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Genetic testing in inherited endocrine disorders: joint position paper of the European reference network on rare endocrine conditions (Endo-ERN) |
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Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis |
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Germ cell nuclear factor is a repressor of CRIPTO-1 and CRIPTO-3. |
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Hereditary Neuropathies. |
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Hereditary Sensory Polyneuropathy, Pain Insensitivity and Global Developmental Delay due to Novel Mutation in PRDM12 Gene. |
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A hereditary spastic paraplegia mouse model supports a role of ZFYVE26/SPASTIZIN for the endolysosomal system |
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Identification of the first multi-exonic WDR72 deletion in isolated amelogenesis imperfecta, and generation of a WDR72-specific copy number screening tool. |
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In Vivo Evidence for Lysosome Depletion and Impaired Autophagic Clearance in Hereditary Spastic Paraplegia Type SPG11 |
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Inherited cases of CNOT3-associated Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies |
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The maternal uniparental disomy of chromosome 6 (upd(6)mat) "phenotype": result of placental trisomy 6 mosaicism? |
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Membrane-shaping disorders: a common pathway in axon degeneration |
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Mice with a targeted disruption of the Cl-/HCO3- exchanger AE3 display a reduced seizure threshold |
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Mice with targeted Slc4a10 gene disruption have small brain ventricles and show reduced neuronal excitability |
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Microangiopathy and mild mixed neuromyopathic alterations in a patient with homozygous PIEZO-2 mutation |
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MiR-145 expression and rare NOTCH1 variants in bicuspid aortic valve-associated aortopathy |
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Missense exchanges in the TTBK2 gene mutated in SCA11. |
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The murine AE4 promoter predominantly drives type B intercalated cell specific transcription |
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Mutations in CRLF1 cause familial achalasia. |
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Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy |
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Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction |
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Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain Perception |
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The Na+-dependent chloride-bicarbonate exchanger SLC4A8 mediates an electroneutral Na+ reabsorption process in the renal cortical collecting ducts of mice |
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Nectin-4 mutations causing ectodermal dysplasia with syndactyly perturb the rac1 pathway and the kinetics of adherens junction formation. |
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Neuropathische Schmerzsyndrome bei Ionenkanalerkrankungen |
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No evidence for point mutations in the novel renal cystine transporter AGT1/SLC7A13 contributing to the etiology of cystinuria |
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Noncoding copy-number variations are associated with congenital limb malformation. |
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Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss |
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Novel familial distal imprinting centre 1 (11p15.5) deletion provides further insights in imprinting regulation |
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Novel homozygous missense mutation in ALDH7A1 causes neonatal pyridoxine dependent epilepsy. |
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A Novel Homozygous WDR72 Mutation in Two Siblings with Amelogenesis Imperfecta and Mild Short Stature |
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Pain insensitivity: distal S6-segment mutations in NaV1.9 emerge as critical hotspot. |
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Pain relief in a neuropathy patient by lacosamide: Proof of principle of clinical translation from patient-specific iPS cell-derived nociceptors |
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The phenotype of congenital insensitivity to pain due to the NaV1.9 variant p.L811P. |
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[Rational use of genetic tests in internal medicine : Possibilities and limitations of next generation sequencing diagnostics] |
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Rdh12 activity and effects on retinoid processing in the murine retina |
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Recessive mutations in the neuronal isoforms of DST, encoding dystonin, lead to abnormal actin cytoskeleton organization and HSAN type VI |
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Recurrent somatic mutations are rare in patients with cryptic dyskeratosis congenita |
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Regulation of endoplasmic reticulum turnover by selective autophagy |
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Renal intercalated cells are rather energized by a proton than a sodium pump |
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Search for altered imprinting marks in Mayer-Rokitansky-Küster-Hauser patients |
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Search for cis-acting factors and maternal effect variants in Silver-Russell patients with ICR1 hypomethylation and their mothers |
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[Sensory and autonomic neuropathies and pain-related channelopathies]. |
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Sensory-Neuropathy-Causing Mutations in ATL3 Cause Aberrant ER Membrane Tethering. |
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Sepsis induces long-lasting impairments in CD4+ T-cell responses despite rapid numerical recovery of T-lymphocyte populations |
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Severe case and literature review of primary erythromelalgia: novel SCN9A gene mutation |
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A spastic paraplegia mouse model reveals REEP1-dependent ER shaping. |
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Stroke as Initial Manifestation of Adenosine Deaminase 2 Deficiency |
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Stroke in Ehlers-Danlos Syndrome Kyphoscoliotic Type: Dissection or Vasculitis? |
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Stroke-like onset of brain stem degeneration presents with unique MRI sign and heterozygous NMNAT2 variant: a case report |
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Targeted disruption of the murine retinal dehydrogenase gene Rdh12 does not limit visual cycle function |
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Transcriptional regulator PRDM12 is essential for human pain perception |
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Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies |
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Uniparental disomy as an unexpected cause of Meckel-Gruber syndrome: report of a case |
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Unique phenotype in a patient with CHARGE syndrome |
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Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3 |
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Untersuchungen zur Zytokinbindung und Rezeptoraktivierung des Signaltransduktors gp130 durch seine Liganden IL-6 und IL-11 |
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Unusual phenotypes in patients with a pathogenic germline variant in DICER1 |
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WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome |
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Whole exome sequencing in congenital pain insensitivity identifies a novel causative intronic NTRK1-mutation due to uniparental disomy |
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