Fine‐Tuning X‐Ray Sensitivity in Organic–Inorganic Hybrids via an Unprecedented Mixed‐Ligand Strategy

Abstract Crystalline organic–inorganic hybrids, which exhibit colorimetric responses to ionizing radiation, have recently been recognized as promising alternatives to conventional X‐ray dosimeters. However, X‐ray‐responsive organic–inorganic hybrids are scarce and the strategy to fine‐tune their detection sensitivity remains elusive. Herein, an unprecedented mixed‐ligand strategy is reported to modulate the X‐ray detection efficacy of organic–inorganic hybrids. Deliberately blending the stimuli‐responsive terpyridine carboxylate ligand (tpc−) and the auxiliary pba− group with different ratios gives rise to two OD thorium‐bearing clusters (Th‐102 and Th‐103) and a 1D coordination polymer (Th‐104). Notably, distinct X‐ray sensitivity is evident as a function of molar ratio of the tpc− ligand, following the trend of Th‐102 > Th‐103 > Th‐104. Moreover, Th‐102, which is exclusively built from the tpc− ligands with the highest degree of π–π interactions, exhibits the most sensitive radiochromic and fluorochromic responses toward X‐ray with the lowest detection limit of 1.5 mGy. The study anticipates that this mixed‐ligand strategy will be a versatile approach to tune the X‐ray sensing efficacy of organic–inorganic hybrids

Identification of ANKDD1B variants in an ankylosing spondylitis pedigree and a sporadic patient

Abstract Background Ankylosing spondylitis (AS) is a debilitating autoimmune disease affecting tens of millions of people in the world. The genetics of AS is unclear. Analysis of rare AS pedigrees might facilitate our understanding of AS pathogenesis. Methods We used genome-wide linkage analysis and whole-exome sequencing in combination with variant co-segregation verification and haplotype analysis to study an AS pedigree and a sporadic AS patient. Results We identified a missense variant in the ankyrin repeat and death domain containing 1B gene ANKDD1B from a Han Chinese pedigree with dominantly inherited AS. This variant (p.L87V) co-segregates with all male patients of the pedigree. In females, the penetrance of the symptoms is incomplete with one identified patient out of 5 carriers, consistent with the reduced frequency of AS in females of the general population. We further identified a distinct missense variant affecting a conserved amino acid (p.R102L) of ANKDD1B in a male from 30 sporadic early onset AS patients. Both variants are absent in 500 normal controls. We determined the haplotypes of four major known AS risk loci, including HLA-B*27, 2p15, ERAP1 and IL23R, and found that only HLA-B*27 is strongly associated with patients in our cohort. Conclusions Together these results suggest that ANKDD1B variants might be associated with AS and genetic analyses of more AS patients are warranted to verify this association

Additional file 3: of Identification of ANKDD1B variants in an ankylosing spondylitis pedigree and a sporadic patient

Table S3. NGS summary. (PPTX 54 kb

Additional file 2: of Identification of ANKDD1B variants in an ankylosing spondylitis pedigree and a sporadic patient

Table S2. Exome sequencing quality metrics. (PPTX 46 kb

Additional file 5: of Identification of ANKDD1B variants in an ankylosing spondylitis pedigree and a sporadic patient

Table S5. ANKDD1B PCR and sequencing primers. (PPTX 40 kb

Additional file 7: of Identification of ANKDD1B variants in an ankylosing spondylitis pedigree and a sporadic patient

Figure S1. ANKDD1B protein domains and sequence alignment. Upper panel: human ANKDD1B domain structure. AR: ankyrin repeat. Lower panel: ANKDD1B protein sequence alignment from zebrafish to human. The two variants identified in the AS9 pedigree and the sAS_P1 patient are indicated. (TIFF 6077 kb

Additional file 1: of Identification of ANKDD1B variants in an ankylosing spondylitis pedigree and a sporadic patient

Table S1. List of patients from the AS9 pedigree and sAS_P1. (PPTX 45 kb

Additional file 4: of Identification of ANKDD1B variants in an ankylosing spondylitis pedigree and a sporadic patient

Table S4. List of candidate genes. (PPTX 46 kb