about
WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndromeMutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathyTranscriptional regulator PRDM12 is essential for human pain perceptionRegulation of endoplasmic reticulum turnover by selective autophagyMice with a targeted disruption of the Cl-/HCO3- exchanger AE3 display a reduced seizure thresholdMutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndromeMembrane-shaping disorders: a common pathway in axon degenerationA hereditary spastic paraplegia mouse model supports a role of ZFYVE26/SPASTIZIN for the endolysosomal systemA functional role of the membrane-proximal extracellular domains of the signal transducer gp130 in heterodimerization with the leukemia inhibitory factor receptorDeletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactylyA de novo gain-of-function mutation in SCN11A causes loss of pain perceptionIn Vivo Evidence for Lysosome Depletion and Impaired Autophagic Clearance in Hereditary Spastic Paraplegia Type SPG11The forkhead transcription factor Foxi1 directly activates the AE4 promoterMice with targeted Slc4a10 gene disruption have small brain ventricles and show reduced neuronal excitabilityRenal intercalated cells are rather energized by a proton than a sodium pump.A spastic paraplegia mouse model reveals REEP1-dependent ER shaping.The Na+-dependent chloride-bicarbonate exchanger SLC4A8 mediates an electroneutral Na+ reabsorption process in the renal cortical collecting ducts of miceExome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V.Missense exchanges in the TTBK2 gene mutated in SCA11.Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss.Unique phenotype in a patient with CHARGE syndrome.Targeted disruption of the murine retinal dehydrogenase gene Rdh12 does not limit visual cycle function.Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies.Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain PerceptionCold-aggravated pain in humans caused by a hyperactive NaV1.9 channel mutant.A Novel Homozygous WDR72 Mutation in Two Siblings with Amelogenesis Imperfecta and Mild Short Stature.Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction.Rdh12 activity and effects on retinoid processing in the murine retina.Analysis of rare APC variants at the mRNA level: six pathogenic mutations and literature review.Stroke-like onset of brain stem degeneration presents with unique MRI sign and heterozygous NMNAT2 variant: a case report.Severe case and literature review of primary erythromelalgia: novel SCN9A gene mutation.Whole exome sequencing in congenital pain insensitivity identifies a novel causative intronic NTRK1-mutation due to uniparental disomy.The murine AE4 promoter predominantly drives type B intercalated cell specific transcription.Stroke as Initial Manifestation of Adenosine Deaminase 2 Deficiency.Germ cell nuclear factor is a repressor of CRIPTO-1 and CRIPTO-3.Stroke in Ehlers-Danlos Syndrome Kyphoscoliotic Type: Dissection or Vasculitis?Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis.The phenotype of congenital insensitivity to pain due to the NaV1.9 variant p.L811P.Nectin-4 mutations causing ectodermal dysplasia with syndactyly perturb the rac1 pathway and the kinetics of adherens junction formation.CLCN7 and TCIRG1 mutations differentially affect bone matrix mineralization in osteopetrotic individuals.
P50
Q24301463-0B7BF1DC-6FD1-4F61-9E7D-4EEEFFC0B02CQ24336807-A3717A28-72C5-4429-A714-EDC51FFE0F4BQ24337786-90032C91-61C0-46E4-A90C-188EC1F8DE71Q24337913-76ABD391-BA07-4118-93B5-A1174F4BFA89Q24535556-8C9F502D-BC6C-4C7A-8893-325B93D34BBAQ24657612-E4A039AA-136E-4F7E-9FB6-F38D16592155Q26852808-F553EFE4-87CE-44D6-9C8E-9BED998889C6Q27318572-85FF235C-DE74-41B5-890E-A035B676B97EQ28202478-EC812BA2-0D16-45FE-B286-BBC32D87CD47Q28257758-B185F822-0F9C-49F9-9544-670540DF49C2Q28298515-E39FB742-47EC-4031-ACB1-254BB4175447Q28512139-071874C2-6812-4FE3-85A7-0753F1B78DE9Q28513920-8BDF9EC1-3519-48D2-A57C-984B66094152Q28594598-9E2C7783-02A8-4057-A6D6-3E6AB150ECF4Q30539701-EB9F5C9D-6BB9-4373-BC89-45AF17291E77Q30547075-58C88CDB-F98C-4AA1-B6E4-CA535532CD14Q33815744-5669F897-B56E-4B7D-9718-47AFB770BF23Q34281920-BC9C2B35-74CB-4C1B-A967-8D1CA9498D23Q34987313-9FE3F5F2-FC2C-486D-BEB5-9B7459F1168DQ35136943-5E729536-CBCB-4912-9C81-19014D5E94CFQ35550537-11EB19A1-D84D-4028-97CB-73E45F792B88Q35641844-1E806AC0-D2CE-4794-8150-B1E312AE11B3Q36096140-2B5A119A-B7ED-4A49-BD40-A21CD13B8A61Q36214268-B9CEB61B-7CF0-470D-A165-6D124E0A7672Q36392068-5DC2D4ED-619A-41BC-83D9-26610E46B207Q36493345-B96BCC82-9857-49F5-8C4E-D937CF4A57AFQ37217021-0CDE76EF-EE6F-456A-AAD6-BFE422884AC3Q37372053-8D398579-8E50-402A-A00C-04AE659AC027Q37386539-FE583B7A-6BB2-4337-B478-8501A436F74EQ37533993-7D8FACFF-3E15-428B-ABF4-5C82A496D23EQ37950230-B31AD4EF-0C67-4A62-9BF4-B7AAC0113D6AQ39762726-B748A1C0-0764-4FE3-B45F-754316447304Q39835105-74FD01EB-37FA-4D39-900E-F140C43D5777Q40075140-879E001A-C452-4D6A-AECF-6C7D64C7E315Q40235401-525B7BD8-C02E-4DB8-A1A5-91B606A45E91Q40489289-C1692341-3A4A-4D18-B407-CBE01A342143Q41392222-5FB73432-4FD8-4C0C-B69F-173EEE8D0EA6Q42611687-C49BCC4F-13EC-41E0-A1DF-E38FC8D467E2Q44135427-DB30AAB8-E1DD-4831-8D47-756E0E750FBFQ46286844-BC11B0FB-5E2E-4DB2-A626-C84014C05343
P50
description
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Ingo Kurth
@en
Ingo Kurth
@es
Ingo Kurth
@nl
Ingo Kurth
@sl
type
label
Ingo Kurth
@en
Ingo Kurth
@es
Ingo Kurth
@nl
Ingo Kurth
@sl
prefLabel
Ingo Kurth
@en
Ingo Kurth
@es
Ingo Kurth
@nl
Ingo Kurth
@sl
P214
P106
P1153
6603320527
P214
P31
P496
0000-0002-5642-8378
P734
P735
P7859
viaf-18171105