A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history.

PurposeIn 2012 we reported in six individuals a clinical condition almost indistinguishable from PLOD1-kyphoscoliotic Ehlers-Danlos syndrome (PLOD1-kEDS), caused by biallelic mutations in FKBP14, and characterized by progressive kyphoscoliosis, myopathy, and hearing loss in addition to connective tissue abnormalities such as joint hypermobility and hyperelastic skin. FKBP14 is an ER-resident protein belonging to the family of FK506-binding peptidyl-prolyl cis-trans isomerases (PPIases); it catalyzes the folding of type III collagen and interacts with type III, type VI, and type X collagens. Only nine affected individuals have been reported to date.MethodsWe report on a cohort of 17 individuals with FKBP14-kEDS and the follow-up of three previously reported patients, and provide an extensive overview of the disorder and its natural history based on clinical, biochemical, and molecular genetics data.ResultsBased on the frequency of the clinical features of 23 patients from the present and previous cohorts, we define major and minor features of FKBP14-kEDS. We show that myopathy is confirmed by histology and muscle imaging only in some patients, and that hearing impairment is predominantly sensorineural and may not be present in all individuals.ConclusionOur data further support the extensive clinical overlap with PLOD1-kEDS and show that vascular complications are rare manifestations of FKBP14-kEDS

A stable crystalline imino-N-heterocyclic carbene ligand and its corresponding palladium(II) and rhodium(I) complexes

The crystalline heteroditopic, acyclic, and nonenolizable imino-N-heterocyclic carbene chelating ligand 1-tert-butyl-3-(1-phenyliminophenylmethylene)imidazol-2-ylidene (designated as C boolean AND imine) has been isolated and structurally characterized. The metal complexes [Pd(C boolean AND imine)Cl-2], [Pd(allyl)(C boolean AND imine)]-PF6, [Rh(COD)(C boolean AND imine)]PF6, and [Rh(CO)(C boolean AND imine)(2)]Cl have been prepared either by Ag transfer or by reaction with the free carbene. The palladiumt(II) complexes have been tested for catalytic application in Suzuki type C-C cross-coupling reactions of aryl bromides and the rhodium(l) complexes for the catalytic hydroformylation of 1-octene. The metal complexes [Pd(C boolean AND imine)Cl-2], [Pd(allyl)(C boolean AND imine)]PF6, and [Rh(CO)(C boolean AND imine)(2)]Cl have been structurally characterized by single-crystal X-ray diffraction

Heterogenised N-heterocyclic carbene complexes: synthesis, characterisation and application for hydroformylation and C-C bond formation reactions

The imidazolium salts: 1-mesityl-3-(3-trimethoxysilylpropyl) imidazolium iodide and 1-tert-butyl-3-(3-trimethoxysilylpropyl) imidazolium iodide, abbreviated as (tmpMes)HI (3a) and (tmptBu)HI (3b), respectively, have been synthesised. The palladium(II) complexes (eta(3)-C3H5) (tmpMes) PdCl (5a) and (eta(3)-C3H5)(tmp(t)Bu)PdCl (5b), rhodium(I) and iridium(I) complexes (eta(4)-1,5-COD) (tmpMes)MCl, M = Rh (6a), Ir (7a) and (eta 4-1,5-COD)(tmp(t)Bu)MCl, where M = Rh (6b), Ir (7b), were synthesised by silver transmetallation reactions using the silver(I) complexes (tmpMes)AgI (4a) and (tmptBu) AgI (4b). The iridium complex 7b has been structurally characterised. The Pd(II) and Rh(I) complexes have been immobilised by attachment to chemically modified MCM-41. The immobilised palladium(II) materials have been tested as recyclable catalysts for Suzuki type C-C bond formation reactions in water and the immobilised rhodium(I) materials have been examined for their catalytic ability for the hydroformylation of 1-octene

Stable crystalline annulated diaminocarbenes: coordination with rhodium(I), iridium(I) and catalytic hydroformylation studies

Stable annulated diaminocarbene ligands 7,9-bis(2,4,6-trimethylphenyl)-6b,9a-dihydroace naphtha[1,2-d]imidazolin-2-ylidene and 7,9-bis(2,6-diisopropylphenyl)-6b,9a-dihydroacenaphtho-[1,2-d]imidazolin-2-ylidene; designated as (BIAN-SIMes, 5a,) and (BIAN-SIPr, 5b), respectively, have been prepared. The base dependent decomposition of imidazolinium salts via ring opening at the backbone was also observed. The corresponding rhodium(I) and iridum(I) complexes (eta(4)-1,5-COD)M(BIAN-SIMes) Cl and (eta(4)-1,5-COD)M(BIAN-SIPr)Cl; M = Rh (6a, 6b) and Ir (7a, 7b) have been synthesised by the reaction of free carbene with [M(eta(4)-1,5-COD)(mu-Cl)](2); where M = Rh, Ir. The cationic Ir(I) complexes [(eta(4)-1,5-COD)Ir(BIAN-SIMes)Py]BF(4) 8a and [(eta(4)-1,5-COD)Ir(BIAN-SIPr)Py]PF(6) 8b have also been synthesised. Compounds 4b, 5a, 6a, 6b, 7b and 8b have been structurally characterised. The catalytic activities for the rhodium(I) complexes 6a and 6b were evaluated for the hydroformylation of 1-octene

Synthesis, Structure, and Temperature-Dependent Dynamics of Neutral Palladium Allyl Complexes of Annulated Diaminocarbenes and Their Catalytic Application for C-C and C-N Bond Formation Reactions

Imidazolinium salts 7,9-bis(2,4,6-trimethylphenyl)-6b,9a-dihydroacenaphtho[1,2-d]imidazolinium tetrafluoroborate and 7,9-bis(2,6-diisopropylphenyl)-6b,9a-dihydroacenaphtho[1,2-d]imidazolinium tetrafluoroborate, designated as [(BIAN-SIMes)(H)]BF(4) (3a) and [(BIAN-SIPr)(H)]BF(4) (3b), respectively, have been prepared and structurally characterized. The molecular structure of 3a shows the presence of a bifurcated hydrogen bond between the tetrafluoroborate anions and the central imidazolinium proton (-NCHN-). The palladium(II) complexes (eta(3)-C(3)H(5))Pd(BIAN-SIMes)Cl (5a) and (eta(3)-C(3)H(5))Pd(BIAN-SIPr)Cl (5b) have been synthesized. The temperature-dependent NMR behavior of sigma-bonded palladium(II) complex 5b was studied. The crystal structure of 5b shows a localized single and double bond between the allyl ligand. The catalytic activities of the palladium(II) complexes 5a and 5b have been evaluated for Suzuki-type C-C coupling and for room-temperature C-N bond formation using aryl halides

Selective palladium-catalysed synthesis of diesters: alkoxycarbonylation of a CO2-butadiene derived delta-lactone

Novel unsaturated C-10 diesters are produced via the alkoxycarbonylation of delta-lactone 1 (3-ethylidene-6-vinyltetrahydro-2H-pyran-2-one), derived from the telomerization of CO2 and butadiene. The key for the selective valorization of 1 is the use of a catalytic system based on PdCl2, a chelating phosphine bearing electron-withdrawing groups and an acidic promoter. The unsaturated C-10 methyl diester can be easily hydrogenated on Pd/C under mild conditions to afford its corresponding saturated diester. Subsequent hydrogenation using the homogeneous [Ru(acac)(3)]/Triphos catalysts gives 2-ethyloctane-1,8-diol in high yield. The overall procedure allows synthesizing new building blocks for the manufacturing of renewable polymers and polymer processing materials

A nonenolizable imino-N-heterocyclic carbene ligand and corresponding silver(I) metal complex

The nonenolizable imino-N-heterocyclic carbene ligand precursor [1-t-butylimidazolium-3-{C(Ph)=N(Ph)}] chloride has been synthesised. The corresponding silver (I) complex Ag(C boolean AND imine)Cl; where C boolean AND imine=[1-t-butylimidazolium-2-ylidene-3-{C(Ph)=N(Ph)}], was prepared by reaction with Ag2O. All of the compounds have been structurally characterized by single crystal X-ray diffraction. (c) 2005 Elsevier B.V. All rights reserved

A State-of-the-Art Heterogeneous Catalyst for Efficient and General Nitrile Hydrogenation

Cobalt-doped hybrid materials consisting of metal oxides and carbon derived from chitin were prepared, characterized and tested for industrially relevant nitrile hydrogenations. The optimal catalyst supported onto MgO showed, after pyrolysis at 700 °C, magnesium oxide nanocubes decorated with carbon-enveloped Co nanoparticles. This special structure allows for the selective hydrogenation of diverse and demanding nitriles to the corresponding primary amines under mild conditions (e.g. 70 °C, 20 bar H2). The advantage of this novel catalytic material is showcased for industrially important substrates, including adipodinitrile, picolinonitrile, and fatty acid nitriles. Notably, the developed system outperformed all other tested commercial catalysts, for example, Raney Nickel and even noble-metal-based systems in these transformations