WoS İndeksli Yayınlar Koleksiyonu

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  • Article
    Citation - WoS: 3
    Citation - Scopus: 3
    Inequality in Access to Urban Amenities
    (Springernature, 2025-07-12) Michelangeli, Alessandra; Osth, John; Toger, Marina; Turk, Umut
    This paper provides an overview of urban inequality in the Stockholm Metropolitan Area analyzing the spatial distribution of amenities and their accessibility. Inequality in urban amenities is measured by a multidimensional index at a fine geographical scale and it can be decomposed into the sum of inequality indices computed on the marginal distributions of amenities across locations plus a residual term accounting for their joint distribution. Our research leverages a unique dataset that combines income data for approximately 90,000 geocoded individuals residing in the metropolitan area with information from the OpenStreetMap platform, enabling us to examine the distribution of both natural and urban design-related amenities. Furthermore, we integrate data from online platforms to analyze the housing market. Our findings reveal moderate levels of inequality in amenities within the Stockholm Metropolitan Area, with social segregation emerging as the primary driver of this inequality.
  • Article
    Citation - WoS: 1
    Citation - Scopus: 1
    A Homozygous Frameshift Variant in the CILK1 Gene Causes Cranioectodermal Dysplasia
    (Springernature, 2025-07-04) Sezer, Abdullah; Oner, Sukru S.; Saat, Hanife; Turan, Merve G.; Gungor, Tulin; Cevik, Sebiha; Kaplan, Oktay I.
    Cranioectodermal dysplasia (CED) is a ciliopathy characterized by skeletal and ectodermal abnormalities, renal failure, and liver fibrosis. Pathogenic variants in genes that encode the intraflagellar transport (IFT) complex components, particularly IFT-A, are responsible for approximately two-thirds of the CED cases. However, the cause of the remaining cases remains unknown. Ciliogenesis-associated kinase 1 (CILK1) is a highly conserved ciliary serine/threonine kinase with an N-terminal catalytic domain responsible for kinase activity and a C-terminal non-catalytic domain that interacts with the IFT-B complex. Biallelic variants in the catalytic domain are associated with lethal skeletal dysplasia, endocrine cerebroosteodysplasia, and short-rib polydactyly syndrome. No human disease has been linked to biallelic variants in the non-catalytic domain. We present a homozygous frameshift variant in the CILK1 gene that affects the distal part of the non-catalytic domain, causing CED in five patients from two pedigrees. All the patients survived into childhood and had disproportionately short stature, skeletal abnormalities, ectodermal dysplasia, renal issues, and liver complications. Functional data from patient-derived cells and the C. elegans model indicate that the variant reduces cilia number, increases cilia length, and disrupts the localization of IFT components. In contrast, the ciliary localization of CILK1 bearing the variant itself remains unaffected. Notably, we rescued the majority of these abnormalities by reintroducing CILK1 into patient-derived cells. Finally, our study describes CILK1 as a novel causal gene and the first non-IFT protein-encoding gene in the etiology of CED, thus expanding the known genotypic, mechanistic, and phenotypic spectrum of CED.