Lista de obras - Ingo Kurth - Dominio Público Uruguay

A Novel Homozygous WDR72 Mutation in Two Siblings with Amelogenesis Imperfecta and Mild Short Stature

artículo científico publicado en 2012

A de novo gain-of-function mutation in SCN11A causes loss of pain perception

artículo científico publicado en 2013

A disease causing ATLASTIN 3 mutation affects multiple endoplasmic reticulum-related pathways

artículo científico publicado en 2019

A functional role of the membrane-proximal extracellular domains of the signal transducer gp130 in heterodimerization with the leukemia inhibitory factor receptor

artículo científico publicado en 2002

A hereditary spastic paraplegia mouse model supports a role of ZFYVE26/SPASTIZIN for the endolysosomal system

artículo científico publicado en 2013

A spastic paraplegia mouse model reveals REEP1-dependent ER shaping.

artículo científico publicado en 2013

A spastic paraplegia mouse model reveals REEP1-dependent ERshaping.

artículo científico publicado en 2014

Analysis of rare APC variants at the mRNA level: six pathogenic mutations and literature review

artículo científico publicado en 2009

CLCN7 and TCIRG1 mutations differentially affect bone matrix mineralization in osteopetrotic individuals

artículo científico publicado en 2014

Cold-aggravated pain in humans caused by a hyperactive NaV1.9 channel mutant

artículo científico publicado en 2015

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

artículo científico publicado en 2012

Different epitopes are required for gp130 activation by interleukin-6, oncostatin M and leukemia inhibitory factor

artículo científico publicado en 2000

Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion.

artículo científico publicado en 2011

Duplications of noncoding elements 5' of SOX9 are associated with brachydactyly-anonychia.

artículo científico publicado en 2009

Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V.

artículo científico publicado en 2012

Familial NEDD4L variant in periventricular nodular heterotopia and in a fetus with hypokinesia and flexion contractures

artículo científico publicado en 2018

Formation of new chromatin domains determines pathogenicity of genomic duplications

artículo científico publicado en 2016

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

artículo científico publicado en 2019

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

artículo científico publicado en 2016

Germ cell nuclear factor is a repressor of CRIPTO-1 and CRIPTO-3.

artículo científico publicado en 2006

Hereditary Neuropathies

artículo científico publicado en 2018

Hereditary Sensory Polyneuropathy, Pain Insensitivity and Global Developmental Delay due to Novel Mutation in PRDM12 Gene

artículo científico publicado en 2017

Hereditary Sensory and Autonomic Neuropathy Type II ⬇️

artículo científico publicado el 1 de enero de 1993

Identification of the first multi-exonic WDR72 deletion in isolated amelogenesis imperfecta, and generation of a WDR72-specific copy number screening tool.

artículo científico publicado en 2016

In Vivo Evidence for Lysosome Depletion and Impaired Autophagic Clearance in Hereditary Spastic Paraplegia Type SPG11

scientific journal article

Inherited cases of CNOT3-associated Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies

artículo científico publicado en 2020

Membrane-shaping disorders: a common pathway in axon degeneration

artículo científico publicado en 2014

MiR-145 expression and rare NOTCH1 variants in bicuspid aortic valve-associated aortopathy

scientific article published on 30 July 2018

Mice with a targeted disruption of the Cl-/HCO3- exchanger AE3 display a reduced seizure threshold

artículo científico publicado en 2006

Mice with targeted Slc4a10 gene disruption have small brain ventricles and show reduced neuronal excitability

artículo científico publicado en 2007

Microangiopathy and mild mixed neuromyopathic alterations in a patient with homozygous PIEZO-2 mutation

artículo científico publicado en 2018

Missense exchanges in the TTBK2 gene mutated in SCA11.

artículo científico publicado en 2009

Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome

artículo científico publicado en 2008

Mutations in CRLF1 cause familial achalasia.

artículo científico publicado en 2016

Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy

artículo científico publicado en 2009

Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction

artículo científico publicado en 2013

Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain Perception

artículo científico publicado en 2016

Nectin-4 mutations causing ectodermal dysplasia with syndactyly perturb the rac1 pathway and the kinetics of adherens junction formation.

artículo científico publicado en 2014

No evidence for point mutations in the novel renal cystine transporter AGT1/SLC7A13 contributing to the etiology of cystinuria

artículo científico publicado en 2018

Noncoding copy-number variations are associated with congenital limb malformation.

artículo científico publicado en 2017

Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss

artículo científico publicado en 2011

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

artículo científico publicado en 2016

Pain insensitivity: distal S6-segment mutations in NaV1.9 emerge as critical hotspot

artículo científico publicado en 2017

Pain relief in a neuropathy patient by lacosamide: Proof of principle of clinical translation from patient-specific iPS cell-derived nociceptors

Rdh12 activity and effects on retinoid processing in the murine retina

scientific article published on 08 June 2009

Recessive mutations in the neuronal isoforms of DST, encoding dystonin, lead to abnormal actin cytoskeleton organization and HSAN type VI

artículo científico publicado en 2018

Recurrent somatic mutations are rare in patients with cryptic dyskeratosis congenita

artículo científico publicado en 2018

Regulation of endoplasmic reticulum turnover by selective autophagy

artículo científico publicado en 2015

Renal intercalated cells are rather energized by a proton than a sodium pump

artículo científico publicado en 2013

Search for altered imprinting marks in Mayer-Rokitansky-Küster-Hauser patients

artículo científico publicado en 2018

Search for cis-acting factors and maternal effect variants in Silver-Russell patients with ICR1 hypomethylation and their mothers

scientific article published on 14 September 2018

Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3

Sensory neuropathy-causing mutations in ATL3 affect ER-mitochondria contact sites and impair axonal mitochondrial distribution

article

Sensory-Neuropathy-Causing Mutations in ATL3 Cause Aberrant ER Membrane Tethering.

artículo científico publicado en 2018

Sepsis induces long-lasting impairments in CD4+ T-cell responses despite rapid numerical recovery of T-lymphocyte populations

article

Severe case and literature review of primary erythromelalgia: novel SCN9A gene mutation

artículo científico publicado en 2011

Stroke as Initial Manifestation of Adenosine Deaminase 2 Deficiency

artículo científico publicado en 2016

Stroke in Ehlers-Danlos Syndrome Kyphoscoliotic Type: Dissection or Vasculitis?

artículo científico publicado en 2017

Stroke-like onset of brain stem degeneration presents with unique MRI sign and heterozygous NMNAT2 variant: a case report

artículo científico publicado en 2016

Targeted disruption of the murine retinal dehydrogenase gene Rdh12 does not limit visual cycle function

artículo científico publicado en 2006

The Na+-dependent chloride-bicarbonate exchanger SLC4A8 mediates an electroneutral Na+ reabsorption process in the renal cortical collecting ducts of mice

artículo científico publicado en 2010

The forkhead transcription factor Foxi1 directly activates the AE4 promoter

scientific journal article

The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME

artículo científico publicado en 2020

The maternal uniparental disomy of chromosome 6 (upd(6)mat) "phenotype": result of placental trisomy 6 mosaicism?

artículo científico publicado en 2017

The murine AE4 promoter predominantly drives type B intercalated cell specific transcription

artículo científico publicado en 2009

The phenotype of congenital insensitivity to pain due to the NaV1.9 variant p.L811P.

artículo científico publicado en 2014

Transcriptional regulator PRDM12 is essential for human pain perception

artículo científico publicado en 2015

Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies

artículo científico publicado en 2012

Uniparental disomy as an unexpected cause of Meckel-Gruber syndrome: report of a case

artículo científico publicado en 2017

Unique phenotype in a patient with CHARGE syndrome

artículo científico publicado en 2011

Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3

scientific article published on 29 October 2019

WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome

artículo científico publicado en 2010

Whole exome sequencing in congenital pain insensitivity identifies a novel causative intronic NTRK1-mutation due to uniparental disomy

artículo científico publicado en 2016

[Neuropathic pain syndromes and channelopathies]

artículo científico publicado en 2019

[Rational use of genetic tests in internal medicine : Possibilities and limitations of next generation sequencing diagnostics]

artículo científico publicado en 2018

[Sensory and autonomic neuropathies and pain-related channelopathies].

artículo científico publicado en 2015

Lista de obras de Ingo Kurth

A Novel Homozygous WDR72 Mutation in Two Siblings with Amelogenesis Imperfecta and Mild Short Stature

A de novo gain-of-function mutation in SCN11A causes loss of pain perception

A disease causing ATLASTIN 3 mutation affects multiple endoplasmic reticulum-related pathways

A functional role of the membrane-proximal extracellular domains of the signal transducer gp130 in heterodimerization with the leukemia inhibitory factor receptor

A hereditary spastic paraplegia mouse model supports a role of ZFYVE26/SPASTIZIN for the endolysosomal system

A spastic paraplegia mouse model reveals REEP1-dependent ER shaping.

A spastic paraplegia mouse model reveals REEP1-dependent ERshaping.

Analysis of rare APC variants at the mRNA level: six pathogenic mutations and literature review

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

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

Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion.

Duplications of noncoding elements 5' of SOX9 are associated with brachydactyly-anonychia.

Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V.

Familial NEDD4L variant in periventricular nodular heterotopia and in a fetus with hypokinesia and flexion contractures

Formation of new chromatin domains determines pathogenicity of genomic duplications

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

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

Hereditary Sensory and Autonomic Neuropathy Type II ⬇️

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

Membrane-shaping disorders: a common pathway in axon degeneration

MiR-145 expression and rare NOTCH1 variants in bicuspid aortic valve-associated aortopathy

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

Missense exchanges in the TTBK2 gene mutated in SCA11.

Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome

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

Nectin-4 mutations causing ectodermal dysplasia with syndactyly perturb the rac1 pathway and the kinetics of adherens junction formation.

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

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

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 neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3

Sensory neuropathy-causing mutations in ATL3 affect ER-mitochondria contact sites and impair axonal mitochondrial distribution

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

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

The Na+-dependent chloride-bicarbonate exchanger SLC4A8 mediates an electroneutral Na+ reabsorption process in the renal cortical collecting ducts of mice

The forkhead transcription factor Foxi1 directly activates the AE4 promoter

The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME

The maternal uniparental disomy of chromosome 6 (upd(6)mat) "phenotype": result of placental trisomy 6 mosaicism?

The murine AE4 promoter predominantly drives type B intercalated cell specific transcription

The phenotype of congenital insensitivity to pain due to the NaV1.9 variant p.L811P.

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

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

[Neuropathic pain syndromes and channelopathies]

[Rational use of genetic tests in internal medicine : Possibilities and limitations of next generation sequencing diagnostics]

[Sensory and autonomic neuropathies and pain-related channelopathies].