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Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructureHEATR2 plays a conserved role in assembly of the ciliary motile apparatusMutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein armsMutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia.Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesiaDYX1C1 is required for axonemal dynein assembly and ciliary motilityCCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogsMutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesiaCombined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney DiseaseCCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms.Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defectsDefects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humansCombined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm.The carboxyl terminus of Neph family members binds to the PDZ domain protein zonula occludens-1Nephrin and CD2AP associate with phosphoinositide 3-OH kinase and stimulate AKT-dependent signalingDevelopment of an automated imaging pipeline for the analysis of the zebrafish larval kidneyExome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvementMutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm DefectsMutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophyAn siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genesShort-rib polydactyly and Jeune syndromes are caused by mutations in WDR60TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport.Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects.Role of the polarity protein Scribble for podocyte differentiation and maintenanceA founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies.A reach-out system for video microscopy analysis of ciliary motions aiding PCD diagnosis.Congenital Central Hypothyroidism due to a Homozygous Mutation in the TSHβ Subunit Gene.Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry.Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum.Clinical genetics and pathobiology of ciliary chondrodysplasias.High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations.Molecular basis of the functional podocin-nephrin complex: mutations in the NPHS2 gene disrupt nephrin targeting to lipid raft microdomains.Exome sequencing for the differential diagnosis of ciliary chondrodysplasias: Example of a WDR35 mutation case and review of the literature.D-lactic acidosis: "right-left disorientation" in laboratory testing: acute encephalopathy in a child with carbohydrate malabsorption syndrome.A high-throughput genome-wide siRNA screen for ciliogenesis identifies new ciliary functional components and ciliopathy genes.Primary cilia-regulated transcriptome in the renal collecting duct.Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertilityExpanding the clinical phenotype of IARS2-related mitochondrial diseaseEditorial: Genetic Kidney Diseases of ChildhoodMAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome)
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description
hulumtuese
@sq
researcher
@en
ricercatrice
@it
wetenschapper
@nl
հետազոտող
@hy
name
Miriam Schmidts
@en
Miriam Schmidts
@es
Miriam Schmidts
@nl
Miriam Schmidts
@sl
type
label
Miriam Schmidts
@en
Miriam Schmidts
@es
Miriam Schmidts
@nl
Miriam Schmidts
@sl
prefLabel
Miriam Schmidts
@en
Miriam Schmidts
@es
Miriam Schmidts
@nl
Miriam Schmidts
@sl
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P227
P106
P21
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0000 0000 1752 4899
P214
P227
P31
P496
0000-0002-1714-6749
P569
1978-01-01T00:00:00Z
P735
P7859
viaf-74951522