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