about
Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial diseaseMutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hairDisruption of neurexin 1 associated with autism spectrum disorder.Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndromeA restricted spectrum of NRAS mutations causes Noonan syndromeThe role of the multidisciplinary health care team in the management of patients with Marfan syndromeInteraction of alphaPIX (ARHGEF6) with beta-parvin (PARVB) suggests an involvement of alphaPIX in integrin-mediated signalingHCCS loss-of-function missense mutation in a female with bilateral microphthalmia and sclerocornea: a novel gene for severe ocular malformations?Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial DysmorphismPAK4 and alphaPIX determine podosome size and number in macrophages through localized actin regulation.AlphaPIX associates with calpain 4, the small subunit of calpain, and has a dual role in integrin-mediated cell spreading.Pontocerebellar hypoplasia type 2 and TSEN2: review of the literature and two novel mutations.Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome.Mitral valve prolapse syndrome and MASS phenotype: Stability of aortic dilatation but progression of mitral valve prolapse.A 1-bp duplication in TGFB2 in three family members with a syndromic form of thoracic aortic aneurysm.The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis.A new gene family (FAM9) of low-copy repeats in Xp22.3 expressed exclusively in testis: implications for recombinations in this region.Evidence of Germline Mosaicism for a Novel BCOR Mutation in Two Indian Sisters with Oculo-Facio-Cardio-Dental Syndrome.Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlapFolate-sensitive fragile site FRA10A is due to an expansion of a CGG repeat in a novel gene, FRA10AC1, encoding a nuclear protein.Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome.The novel centrosomal associated protein CEP55 is present in the spindle midzone and the midbody.An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome.Mutations in NDUFB11, encoding a complex I component of the mitochondrial respiratory chain, cause microphthalmia with linear skin defects syndrome.Phenotypic and molecular insights into CASK-related disorders in males.Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies.AlphaPIX and betaPIX and their role in focal adhesion formation.The 5-phosphatase OCRL mediates retrograde transport of the mannose 6-phosphate receptor by regulating a Rac1-cofilin signalling module.AlphaPIX Rho GTPase guanine nucleotide exchange factor regulates lymphocyte functions and antigen receptor signaling.Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutationsMutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition.Dermatoscopic aspects of the microphthalmia with linear skin defects (MLS) syndrome.Acute Liver Failure Meets SOPH Syndrome: A Case Report on an Intermediate Phenotype.Interpretation of sequence variants of the FBN1 gene: analog or digital? A commentary on decreased frequency of FBN1 missense variants in Ghent criteria-positive Marfan syndrome and characterization of novel FBN1 variants.Phenotypic spectrum associated with CASK loss-of-function mutations.Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.Oncogenic HRAS mutations cause prolonged PI3K signaling in response to epidermal growth factor in fibroblasts of patients with Costello syndrome.Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.Duplication of Glu37 in the switch I region of HRAS impairs effector/GAP binding and underlies Costello syndrome by promoting enhanced growth factor-dependent MAPK and AKT activation.SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome.
P50
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P50
description
hulumtuese
@sq
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Kerstin Kutsche
@ast
Kerstin Kutsche
@en
Kerstin Kutsche
@es
Kerstin Kutsche
@nl
Kerstin Kutsche
@sl
type
label
Kerstin Kutsche
@ast
Kerstin Kutsche
@en
Kerstin Kutsche
@es
Kerstin Kutsche
@nl
Kerstin Kutsche
@sl
prefLabel
Kerstin Kutsche
@ast
Kerstin Kutsche
@en
Kerstin Kutsche
@es
Kerstin Kutsche
@nl
Kerstin Kutsche
@sl