bluuebunny/crossref_metadata_2025_split huggingface dataset:
Molecular Genetics of
H
ermansky–
P
udlak Syndrome
Authors: Huizing Marjan , Gochuico Bernadette R , Gahl William A , Malicdan May Christine V 
Published: April 2017

Abstract

Hermansky–Pudlak syndrome (HPS) is an autosomal recessive, genetically heterogeneous disorder characterised by oculocutaneous albinism and a bleeding diathesis. Subtype‐specific features such as neutropenic immunodeficiency and fatal lung fibrosis also occur. To date, 10 human HPS subtypes (HPS‐1 to HPS‐10) and their associated genes have been identified. All of the HPS protein products are involved in the biogenesis of lysosome‐related organelles (LROs) in specialised cells, including melanosomes in melanocytes and delta granules in platelets. The HPS proteins are all components of one of the three biogenesis of lysosome‐related organelles complexes (BLOC‐1, BLOC‐2 or BLOC‐3) or the adaptor protein complex‐3. These complexes are essential for the correct formation of LROs, which are produced by the complex interaction of proteins, membranes and vesicles from the endocytic and biosynthetic pathways. Cells from patients with LRO disorders serve as useful tools for elucidating the complex pathways involved in the biogenesis of these organelles.

Key Concepts

HPS is caused by mutations in 10 known genes and is characterised by oculocutaneous albinism and a bleeding tendency.

The proteins that are encoded by the HPS genes are all required for the correct formation of lysosome‐related organelles (LROs).

LROs share features with lysosomes but have distinct morphology, composition and/or functions.

LROs are maintained by the regulated flow of proteins, membranes and vesicles among the complex endosomal machinery.

Novel players of LRO biogenesis are revealed by human disease and animal mutations, which continue to provide invaluable resources for elucidating the complex pathways involved in the biogenesis of these organelles.
Rhodium(III)‐Catalyzed Cascade Redox‐Neutral C–H Functionalization and Aromatization: Synthesis of Unsymmetrical ortho‐Biphenols
Authors: Hu Zhiyong , Liu Guixia 
Published: April 2017

AbstractAn efficient rhodium(III)‐catalyzed coupling reaction of N‐aryloxyacetamides with 6‐diazo‐2‐cyclohexenones through a cascade redox‐neutral C–H functionalization and aromatization has been developed. This novel and scalable transformation provides a straightforward way to construct unsymmetrical ortho‐biphenols with broad substrate scope under mild and redox‐neutral conditions. The synthetic utility of this approach is demonstrated in the late‐stage functionalization of bioactive compounds and the synthesis of an optically active ortho‐biphenol.magnified image
Recent Advances in Reactions of Azides
Authors: Huang Dayun , Yan Guobing 
Published: April 2017

AbstractAzides are important intermediates in organic synthesis. They can function as precursors to form amines, amides, quinolones, pyridines, triazoles, amidines, indoles, and so on. Although there are some reviews about the applications of azides, few are concerned about their fundamental mechanisms. This review will focus on recent advances of azides based on three reactivity patterns, which may enlighten the further research.magnified image
Construction of Spiro[indene‐2,1′‐pyrrolo[2,1‐a]isoquinoline]s through a Visible‐Light‐Catalyzed Oxidative [3+2] Cycloaddition Reaction
Authors: Jiang Yan‐Hong , Sun Jing , Sun Qiu , Yan Chao‐Guo 
Published: April 2017

AbstractUnder visible‐light catalysis, a domino oxidative 1,3‐dipolar cycloaddition reaction of alkyl 2‐(3,4‐dihydroisoquinolin‐2‐yl)acetate with 2‐arylideneindane‐1,3‐diones has been developed that affords functionalized spiro[indene‐2,1′‐pyrrolo[2,1‐a]isoquinoline]s in satisfactory yields and high diastereoselectivities. Depending on the electronic properties of the aryl group, similar reactions with tert‐butyl 2‐(3,4‐dihydroisoquinolin‐2‐yl)acetate and 2‐(3,4‐dihydroisoquinolin‐2(1H)‐yl)acetonitrile selectively gave spiro[indene‐2,1′‐pyrrolo[2,1‐a]isoquinoline]s and 3‐arylspiro[indene‐2,2′‐oxirane]‐1,3‐diones, respectively.
Cobalt(II)/TFA‐Catalyzed Oxidative Esterification of Aldehydes and Alcohols: Dual Role of the Acid Co‐Catalyst
Authors: Mahmood Sajid , Li Ting , Xu Bao‐Hua , Guo Ya‐Fei , Zhang Suo‐Jiang 
Published: April 2017

AbstractA CoII/CF3COOH (TFA)‐catalyzed oxidative esterification of aldehydes and alkanols by using tBuOOH as an oxidant is reported. A mechanistic investigation indicated that the oxidation reaction proceeded through the formation of a CoIII−OCH(OMe)R complex, followed by H‐atom abstraction by an in‐situ‐generated tBuO. radical. The former kinetic step was thought to be the selectivity‐determining step. Moreover, the strong acidity and TFA proton were beneficial for both the dehydrative formation of the CoIII−OCH(OMe)R complex and the redox properties of the cobalt atom, thereby offering high efficiency for the target oxidative cross‐coupling reaction.
Synthesis of Functionalized 4‐Fluoropyridazines
Authors: Feraldi‐Xypolia Alexandra , Fredj Gregory , Tran Gaël , Tsuchiya Tomoki , Vors Jean‐Pierre , Mykhailiuk Pavel , Gomez Pardo Domingo , Cossy Janine 
Published: April 2017

AbstractA route to 4‐fluoropyridazines by a [2+1]/[3+2] cycloaddition sequence between an acetylenic derivative, a difluorocarbene source, and a diazo compound is reported. This approach is highly modular and compatible with a broad range of functional groups. The protocol does not require the isolation of any reactive intermediates and, thus, allows for access to a wide range of 4‐fluoropyridazines in a single synthetic step from simple alkynes. Furthermore, these fluorinated compounds can be easily diversified by nucleophilic aromatic substitution (SNAr) to displace the fluoro group to give a wider range of 3,4,6‐trisubstituted pyridazines. As a result of increasing interest in functionalized pyridazines as well as fluorinated derivatives, this efficient and concise approach to 4‐fluoropyridazines should be of value to medicinal chemists.
Cardiac arrest caused by rapidly increasing ascites in a patient with TAFRO syndrome: a case report
Authors: Okumura Masatoshi , Ujiro Atsushi , Otsuka Yasunori , Yamamoto Hiroshi , Wada Sho , Iwata Hirofumi , Kan Toshiaki , Miyauchi Seiji , Hashimoto Atsushi , Sato Yuko , Fujita Yoshihito , Fujiwara Yoshihiro , Shimaoka Hideki 
Published: April 2017

CaseThrombocytopenia, anasarca, fever, renal insufficiency, and organomegaly (TAFRO) syndrome is a newly defined systemic inflammatory disorder with gradual progression of symptoms. A 59‐year‐old man with fever and ascites of unknown cause developed sudden‐onset shock and respiratory failure in the general ward. Cardiac arrest immediately followed. Although he was resuscitated, frequent administration of adrenaline was required to maintain his blood pressure. His circulation was most effectively stabilized by drainage of fluid from his distended abdomen. The volume of discharged ascites reached 4,000 mL at that time, and several liters continued to be discharged for >1 month. The diagnosis of TAFRO syndrome was based on the clinical features and laboratory and histological findings.OutcomeThe ascites volume and concentrations of inflammatory parameters decreased with treatment using several immunosuppressive agents.ConclusionThe newly defined TAFRO syndrome may be life‐threatening. Patients should be monitored for progression to shock and cardiac arrest, especially those with rapidly increasing ascites.
Von zweizähnigen Gallium‐Lewis‐Säuren zu supramolekularen Komplexen
Authors: Horstmann Jan , Hyseni Mentor , Mix Andreas , Neumann Beate , Stammler Hans‐Georg , Mitzel Norbert W. 
Published: April 2017

AbstractZweizähnige Gallium Lewis‐Säuren wurden ausgehend von Diethinyldiphenylsilan in reinem Trimethyl‐ oder Triethylgallium dargestellt. Bis[(dimethylgallanyl)ethinyl]diphenylsilan (1) und dessen Diethylgallanyl‐Derivat 2 wurden als Et2O‐ oder Pyridin‐Addukte NMR‐spektroskopisch charakterisiert; 2⋅2 Py wurde isoliert. Die Lewis‐Säuren 1 und 2 bilden Wirt‐Gast‐Addukte mit zweizähnigen Stickstoffbasen; dabei bilden sich nur bei passendem N⋅⋅⋅N‐Abstand cyclische 1:1‐Addukte aus 1 und 4,4′‐Dimethyl‐3,3′‐bipyridylacetylen (3), Bis[(pyrid‐3‐yl)ethinyl]diphenylsilan (4) oder Bis[(2‐methylpyrid‐5‐yl)ethyinyl]diphenylsilan (5). Die cyclischen Addukte 1⋅3, 1⋅4 und 1⋅5 wurde mittels Röntgenbeugungsexperimenten identifiziert. 2⋅2 Py reagiert mit DABCO zur polymeren Spezies (DABCO‐2‐)n.
Enantioselective Heck–Matsuda Arylations through Chiral Anion Phase‐Transfer of Aryl Diazonium Salts
Authors: Avila Carolina M. , Patel Jigar S. , Reddi Yernaidu , Saito Masato , Nelson Hosea M. , Shunatona Hunter P. , Sigman Matthew S. , Sunoj Raghavan B. , Toste F. Dean 
Published: April 2017

AbstractA mild, asymmetric Heck–Matsuda reaction of five‐, six‐ and seven‐membered ring alkenes and aryl diazonium salts is presented. High yields and enantioselectivities were achieved using Pd0 and chiral anion co‐catalysts, the latter functioning as a chiral anion phase‐transfer (CAPT) reagent. For certain substrate classes, the chiral anion catalysts were modulated to minimize the formation of undesired by‐products. More specifically, BINAM‐derived phosphoric acid catalysts were shown to prevent alkene isomerization in cyclopentene and cycloheptene starting materials. DFT(B3LYP‐D3) computations revealed that increased product selectivity resulted from a chiral anion dependent lowering of the activation barrier for the desired pathway.
Cu/Pd Synergistic Dual Catalysis: Asymmetric α‐Allylation of an α‐CF3 Amide
Authors: Saito Akira , Kumagai Naoya , Shibasaki Masakatsu 
Published: April 2017

AbstractDespite the burgeoning demand for fluorine‐containing chemical entities, the construction of CF3‐containing stereogenic centers has remained elusive. Herein, we report the strategic merger of CuI/base‐catalyzed enolization of an α‐CF3 amide and Pd0‐catalyzed allylic alkylation in an enantioselective manner to deliver chiral building blocks bearing a stereogenic carbon center connected to a CF3, an amide carbonyl, and a manipulable allylic group. The phosphine complexes of CuI and Pd0 engage in distinct catalytic roles without ligand scrambling to render the dual catalysis operative to achieve asymmetric α‐allylation of the amide. The stereoselective cyclization of the obtained α‐CF3‐γ,δ‐unsaturated amides to give tetrahydropyran and γ‐lactone‐fused cyclopropane skeletons highlights the synthetic utility of the present catalytic method as a new entry to non‐racemic CF3‐containing compounds.
Synthesis of Long Oxahelicenes by Polycyclization in a Flow Reactor
Authors: Nejedlý Jindřich , Šámal Michal , Rybáček Jiří , Tobrmanová Miroslava , Szydlo Florence , Coudret Christophe , Neumeier Maria , Vacek Jaroslav , Vacek Chocholoušová Jana , Buděšínský Miloš , Šaman David , Bednárová Lucie , Sieger Ladislav , Stará Irena G. , Starý Ivo 
Published: April 2017

AbstractA series of oxahelicenes composed of ortho/meta‐annulated benzene/pyridine and 2H‐pyran rings were synthesized on the basis of the cobalt(I)‐mediated (or rhodium(I)‐ or nickel(0)‐mediated) double, triple, or quadruple [2+2+2] cycloisomerization of branched aromatic hexa‐, nona‐, or dodecaynes, thus allowing the construction of 6, 9, or 12 rings in a single operation. The use of a flow reactor was found to be beneficial for the multicyclization reactions. The stereogenic centers present in some of the oligoynes steered the helical folding in such a way that the final oxa[9]‐, [13]‐, [17]‐ and [19]helicenes were obtained in both enantiomerically and diastereomerically pure form. Specifically, the oxa[19]helicenes beat the current record in the length of a helicene backbone. Single‐molecule conductivity was studied by the mechanically controllable break‐junction method with a pyridooxa[9]helicene.
Catalytic Enantioselective Synthesis of 2,5‐Dihydrooxepines
Authors: Shim Su Yong , Cho Soo Min , Venkateswarlu Anipireddy , Ryu Do Hyun 
Published: April 2017

AbstractA Michael addition initiated cyclopropanation/retro‐Claisen rearrangement tandem reaction was developed for the enantioselective synthesis of highly functionalized 2,5‐dihydrooxepines. In the presence of a chiral oxazaborolidinium ion (COBI) catalyst, the reaction proceeds to give good yields and high enantioselectivity.
Lewis Acid Promoted Single C–F Bond Activation of the CF3 Group: SN1′‐Type 3,3‐Difluoroallylation of Arenes with 2‐Trifluoromethyl‐1‐alkenes
Authors: Fuchibe Kohei , Hatta Hibiki , Oh Ken , Oki Rie , Ichikawa Junji 
Published: April 2017

AbstractActivation of the sp3 C−F bond in 2‐trifluoromethyl‐1‐alkenes was accomplished through treatment with a Lewis acid. In the presence of an equimolar amount of EtAlCl2, the (trifluoromethyl)alkenes readily underwent an SN1′‐type reaction with arenes through a Friedel–Crafts‐type mechanism via elimination of a fluoride ion to afford 3,3‐difluoroallylated arenes in good yields. This selective activation of one C−F bond of the CF3 group provides a synthetic method for accessing biologically and synthetically important 1,1‐difluoro‐1‐alkenes.
A Scalable and Versatile Synthesis of Oxime‐Based Hormone Dimers and Gels for Sustained Release
Authors: Bennett Christopher W. , Collins Joe , Xiao Zeyun , Klinger Daniel , Connal Luke A. 
Published: April 2017

AbstractWell‐defined steroid hormone dimers and organogels were produced via a facile and scalable synthesis using oxime click chemistry. The versatile synthetic procedure extends to a wide range of hormones and linker groups exemplified here through the synthesis of cortisol‐ and progesterone‐dimers linked via hydrophobic, hydrophilic or functional groups. This method was also extended to the synthesis of cortisone‐based organogels. Owing to the dynamic nature of the oxime bond, the hormone‐based materials are degradable via acidic hydrolysis and transoximination representing new materials for the controlled release of steroid hormones.
Cyclometalated Iridium(III) Bipyridine–Phenylboronic Acid Complexes as Bioimaging Reagents and Luminescent Probes for Sialic Acids
Authors: Liu Hua‐Wei , Law Wendell Ho‐Tin , Lee Lawrence Cho‐Cheung , Lau Jonathan Chun‐Wai , Lo Kenneth Kam‐Wing 
Published: April 2017

AbstractSialic acids play important roles in mammalian development, cell–cell attachment, and signaling. As cancer cells utilize their overexpressed sialylated antigens to propagate metastases, the development of probes for sialic acids is of high importance. Herein, we report three luminescent cyclometalated iridium(III) bipyridine complexes bearing a phenylboronic acid (PBA) moiety. Spectrophotometric titrations revealed that the PBA complexes displayed higher binding affinity for the most common sialic acid N‐acetylneuraminic acid (Neu5Ac) compared with simple sugars that are commonly found on glycoproteins. Notably, cellular imaging and uptake experiments showed that the PBA complexes were able to recognize cellular sialic acid residues, resulting in more efficient uptake than the boronic acid‐free analogs. Additionally, one of the PBA complexes was shown to discriminate between cancerous and noncancerous cells.
Short Syntheses of 4‐Deoxycarbazomycin B, Sorazolon E, and (+)‐Sorazolon E2
Authors: Sako Makoto , Ichinose Kazuya , Takizawa Shinobu , Sasai Hiroaki 
Published: April 2017

AbstractShort syntheses of 4‐deoxycarbazomycin B and sorazolon E were established through the condensation of cyclohexanone and commercially available 4‐methoxy‐2,3‐dimethylaniline, followed by PdII‐catalyzed dehydrogenative aromatization/intramolecular C−C bond coupling and deprotection. A chiral dinuclear vanadium complex (Ra,S,S)‐6 mediated the enantioselective oxidative coupling of sorazolon E, affording (+)‐sorazolon E2 in good enantioselectivity.
Glutathione‐stabilized Cu nanocluster‐based fluorescent probe for sensitive and selective detection of Hg2+ in water
Authors: Luo Tingting , Zhang Shiting , Wang Yujue , Wang Meina , Liao Mei , Kou Xingming 
Published: April 2017

AbstractIn this paper, an innovative and facile one‐pot method for synthesizing water‐soluble and stable fluorescent Cu nanoclusters (CuNCs), in which glutathione (GSH) served as protecting ligand and ascorbic acid (AA) as reducing agent was reported. The resultant CuNCs emitted blue‐green fluorescence at 440 nm, with a quantum yield (QD) of about 3.08%. In addition, the prepared CuNCs exhibited excellent properties such as good water solubility, photostability and high stability toward high ionic strength. On the basis of the selective quenching of Hg2+ on CuNCs fluorescence, which may be the result of Hg2+ ion‐induced aggregation of the CuNCs, the CuNCs was used for the selective and sensitive determination of Hg2+ in aqueous solution. The proposed analytical strategy permitted detection of Hg2+ in a linear range of 4 × 10−8 to 6 × 10−5 M, with a detection limit of 2.2 × 10−8 M. Eventually, the practicability of this sensing approach was confirmed by its successful application to assay Hg2+ in tap water, Lotus lake water and river water samples with the quantitative spike recoveries ranging from 96.9% to 105.4%.
Comparison of antithrombotic agents during urgent percutaneous coronary intervention following thrombolytic therapy: A retrospective cohort study
Authors: Mallidi Jaya R. , Robinson Peter , Visintainer Paul F. , Lotfi Amir S. , Mulvey Scott , Giugliano Gregory R. 
Published: April 2017

BackgroundThe optimal antithrombotic regimen for urgent percutaneous coronary interventions (PCI) following thrombolytic therapy for ST segment myocardial infarction (STEMI) is currently unknown.MethodsWe performed a retrospective analysis of all patients referred to our institution from January 2005 to July 2014 who underwent urgent PCI within 24 hr after receiving thrombolytic therapy. The patients were divided into three cohorts based on the anticoagulation strategy during PCI‐bivalirudin, heparin alone or heparin plus Glycoprotein IIb/IIIa inhibitor (GPI). The primary end point of major adverse cardiovascular events (MACE) was defined as a composite of inpatient death, myocardial infarction (MI) and stroke. Net adverse clinical events (NACE) were defined as a combination of MACE plus major bleeding complications. Univariable, multivariable and propensity‐weighted modeling were used to compare MACE and NACE between the three treatment groups.ResultsA total of 695 patients met the inclusion criteria during the study period. In the univariable analysis, there was no significant difference treatment in MACE between the three groups (Bivalirudin: 1.2% vs. Heparin + GPI: 4.4%; Heparin alone: 2.7%,P = 0.11). In the reduced logistic regression model, compared to bivalirudin, the odds of NACE was significantly higher with heparin alone (OR: 3.58, 95% CI: 1.21, 10.54,P = 0.02) or with heparin plus GPI (OR: 9.0, 95% CI: 2.83, 28.64,P<0.001).ConclusionIn STEMI patients undergoing PCI within 24 hr after thrombolytic therapy, bivalirudin was associated with a strong trend toward reduced bleeding complications as compared to heparin alone or heparin plus GPI.The optimal antithrombotic regiment for urgent PCI following thrombolytic therapy is currently unknown. Our study demonstrated that use of bivalirudin during PCI following thrombolytic therapy is associated with a trend toward reduced bleeding complications compared to heparin alone or heparin plus GPI. Large randomized trials of adjunctive anticoagulation during PCI in this complex post‐thrombolytic population are warranted. © 2017 Wiley Periodicals, Inc.
The Italian stallions of CLI “value care” delivery
Authors: Ansel Gary M. , Jaff Michael R. 
Published: April 2017

Key Points

Critical Limb ischemia with long segment occlusive disease typically reserved for surgery can be treated with a high degree of success in expert centers via an endovascular approach
Nitinol woven stents appear to have high patency with proper deployment in all PAD groups
Increased early expense that is associated with decreased re‐intervention can be cost effective
The role of rotational atherectomy in contemporary chronic total occlusion percutaneous coronary intervention
Authors: Sandoval Yader , Brilakis Emmanouil S. 
Published: April 2017

Key Points

Rotational atherectomy is performed infrequently (∼3.5%) during chronic total occlusion (CTO) percutaneous coronary intervention (PCI) for two indications: treatment of balloon uncrossable and balloon undilatable lesions.
Use of rotational atherectomy in CTO PCI was associated with high success and acceptable complication rates.
Rotational atherectomy remains a “must have” device for interventional cardiologists performing complex PCI.
Diffuse large B‐cell lymphoma mimicking cardiac amyloidosis
Authors: Lau Lawrence , Mozolevska Viktoriya , Kirkpatrick Iain D. C. , Jassal Davinder S. , Kansara Roopesh 
Published: April 2017

Key Clinical MessageOur case highlights that cardiac lymphoma may mimic amyloid infiltration of the myocardium on cardiac magnetic resonance (CMR), and is a particularly challenging diagnosis in the setting of transformed Waldenström's macroglobulinemia. Heightened suspicion and early diagnosis of cardiac lymphoma is paramount as chemotherapy has been demonstrated to portent an increased survival rate.
Importance of Ligand Effects Breaking the Scaling Relation for Core–Shell Oxygen Reduction Catalysts
Authors: Back Seoin , Jung Yousung 
Published: April 2017

AbstractTremendous recent efforts have been made toward developing highly active oxygen reduction reaction (ORR) catalysts with a minimized usage of noble metal Pt by using Pt alloys and core–Pt shell structures. A main computational framework for such a goal has been the search for a new material with the *OH binding slightly weaker than Pt based on the conventional volcano relation of ORR activity versus *OH binding energy. In this work, by using carbides and nitrides as core materials, we demonstrate that the conventional scaling relation between *OH and *O can be completely broken owing to a significant ligand–Pt orbital interactions in the core–Pt shell structure, and in such cases, the usual catalyst design strategy of tuning the *OH binding energy of Pt to a weaker leg of the volcano can mislead the prediction. In these cases, one needs to consider all reaction intermediates to appropriately predict the activity of ORR catalysts. We additionally show that, although the transition metal nitrides and carbides studied here as core materials all induce an undesired tensile strain to the Pt overlayers with a stronger *OH binding, a proper tuning of the ligand (core) effects in the Pt1 and Pt2 overlayers core–shell configurations can lead to an activity comparable to or slightly better than Pt.