bluuebunny/crossref_metadata_2025_split huggingface dataset:
Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly polymicrogyria‐polydactyly hydrocephalus syndromes
Authors: Gripp Karen W. , Hopkins Elizabeth , Vinkler Chana , Lev Dorit , Malinger Gustavo , Lerman‐Sagie Tally , Dobyns William B. 
Published: April 2009

AbstractWe report on three patients with macrocephaly and polymicrogyria, and additional anomalies seen in megalencephaly polymicrogyria‐polydactyly hydrocephalus (MPPH) and macrocephaly capillary malformation (MCM) syndromes. Based on their characteristic brain malformations they were originally diagnosed with MPPH. In one patient the phenotype evolved during early infancy, and ultimately resulted in a diagnosis of MCM. A second was prenatally diagnosed with MPPH, but postnatally visualized capillary malformations led to a diagnosis of MCM. In a third, the original MPPH diagnosis was reconsidered after a critical review revealed additional subtle findings suggestive of MCM. Characteristic brain malformations are thought to distinguish between MPPH with perisylvian polymicrogyria, and MCM with megalencephaly with Chiari 1 malformation. However, polymicrogyria was reported in a significant number of patients with MCM. Conversely, upon review of imaging studies of patients with MPPH, we noted progressive crowding of the posterior fossa and acquired tonsillar herniation, a process deemed characteristic for MCM. Thus, neither polymicrogyria nor acquired tonsillar herniation are distinguishing features, and occur in both disorders. In addition to brain abnormalities, shared findings include cognitive impairment, coarse facial features and postaxial polydactyly. Facial nevus flammeus and cutis marmorata are most noticeable in infancy, and ligamentous laxity and redundant soft tissue are somewhat subjective findings. While asymmetric overgrowth is considered typical for MCM, it is not universally present. These variable and subtle findings can be identified in patients with MPPH. We propose that MPPH and MCM may not represent distinct entities and that the term MPPH‐CM syndrome be used to describe this spectrum. © 2009 Wiley‐Liss, Inc.
Rationale and background as basis for a new classification of the ectodermal dysplasias
Authors: Itin Peter H. 
Published: April 2009

AbstractEctodermal dysplasias are heterogeneous heritable conditions characterized by congenital defects of one or more ectodermal structures and their appendages. Of approximately 200 different ectodermal dysplasias, about 30 have been identified at molecular level with identification of the causative gene. Itin and Fistarol emphasized that rather commonly non‐fully expressed phenotypes exist, which make a clinical diagnosis more difficult. Freire‐Maia and Pinheiro used the clinical aspects for their classification and Priolo integrated molecular genetic and clinical aspects for her scheme. Those two more historical classification schemes have the difficulty that when applied strictly, several additional groups of disorders should be integrated within the term of ectodermal dysplasias, for example, keratodermas with skin or hair alterations or the ichthyoses with associated abnormalities. Such consequent classification would lead to an endless list of conditions and would be useless for practical work. Recent evidence implicates a genetic defect in different pathways orchestrating ectodermal organogenesis. Modern molecular genetics will increasingly elucidate the basic defects of the different syndromes and yield more insight into the regulatory mechanisms of morphogenesis. In this way a reclassification of ectodermal dysplasias will be possible according to the function of their involved mutated genes. I will focus on the fact that with molecular methods it is possible to diagnose oligosymptomatic forms of ectodermal dysplasia. This is much more common than earlier anticipated and with the classification of ectodermal dysplasia on the basis of molecular diagnosis a new avenue is opened for symptom complexes which were impossible to classify in former times. © 2009 Wiley‐Liss, Inc.
Split hand‐foot malformation, tetralogy of Fallot, mental retardation and a 1 Mb 19p deletion—evidence for further heterogeneity?
Authors: Aten Emmelien , den Hollander Nicolette , Ruivenkamp Claudia , Knijnenburg Jeroen , van Bokhoven Hans , den Dunnen Johan , Breuning Martijn 
Published: April 2009

AbstractCongenital limb malformations are the second most common birth defects observed in infants. Split hand foot malformation (SHFM), also known as central ray deficiency, ectrodactyly and cleft hand/foot, occurs isolated or in combination with other malformations. We report on a male patient with SHFM, tetralogy of Fallot and a clinical phenotype suggestive of Angelman syndrome. Using array based genome analysis (3K BACs and 500K SNPs), we identified a de novo deletion of chromosome 19p13.11, confirmed by Fluorescent In Situ Hybridization analysis. The deletion is 0.99 Mb in size and contains 28 genes. The proximal breakpoint of the deletion is in EPS15L1, which may be involved in vertebrate limb development. Subsequent screening of 21 syndromic and nonsyndromic SHFM patients (TP73L mutation negative) for rearrangements using Multiplex Ligation‐dependent Probe Amplification did not detect other deletions or duplications in chromosome 19. These findings suggest that our patient may have a new contiguous gene syndrome and indicates that SHFM is genetically more heterogeneous than currently known. © 2009 Wiley‐Liss, Inc.
Compound heterozygous ASPM mutations in Pakistani MCPH families
Authors: Muhammad Farooq , Mahmood Baig Shahid , Hansen Lars , Sajid Hussain Muhammad , Anjum Inayat Iram , Aslam Muhammad , Anver Qureshi Javed , Toilat Muhammad , Kirst Elisabeth , Wajid Muhammad , Nürnberg Peter , Eiberg Hans , Tommerup Niels , Kjaer Klaus W. 
Published: April 2009

AbstractAutosomal recessive primary microcephaly (MCPH) is characterized by reduced head circumference (≤4 SD) and mental retardation without any other neurological manifestation. Of the four identified MCPH genes, homozygous truncating mutations in ASPM (MCPH5) account for >50% of all reported families. In spite of the high frequency of MCPH in Pakistan only one case of compound heterozygosity for mutations in ASPM has been reported yet. In this large MCPH study we ascertained 37 families including 319 persons (140 patients). Haplotype analysis of eight STS markers suggested linkage by homozygosity in 20 families, and re‐analysis of single sib ships in the remaining families demonstrated possible compound heterozygosity in two families. Direct sequencing indeed confirmed compound heterozygosity in two and homozygous mutations in 20 families, respectively, showing that up to 10% of families with MCPH caused by ASPM are compound heterozygous. In total we identified 16 different nonsense or frameshift mutations of which 12 were novel thereby increasing the number of mutations in ASPM significantly from 35 to 47. We found no correlation between the severity of the condition and the site of truncation. We suggest that the high frequency of compound heterozygosity observed in this study is taken into consideration as part of future genetic testing and counseling in Pakistani MCPH families. © 2009 Wiley‐Liss, Inc.
Constitutional trisomy 8 and Behçet syndrome
Authors: Becker Kristin , FitzGerald Oliver , Green Andrew J , Keogan Mary , Newbury‐Ecob Ruth , Greenhalgh Lynn , Withers Stephen , Hollox Edward J. , Aldred Patricia M.R. , Armour John A.L. 
Published: April 2009

AbstractThe characteristic clinical features of constitutional trisomy 8 include varying degrees of developmental delay, joint contractures and deep palmar and plantar creases. There is an established literature, which describes features of Behçet syndrome occurring in phenotypically normal individuals with myelodysplastic syndromes and trisomy 8 in their bone marrow. In this article, we describe four patients with constitutional trisomy 8, all with varying clinical phenotypes, who developed features of Behçet, in particular but not exclusively mucocutaneous ulceration. In addition, we examined gene copy numbers of the variable‐number neutrophil defensin genes DEFA1A3 in one of the cases (case 1) and her parents, together with 14 cases of Behçet syndrome in comparison with 121 normal controls. The gene copy number was highest in case 1 (copy number 14) and was also increased in her parents (both copy number 9). However the mean copy number for DEFA1A3 among the 14 Behçet syndrome patients was actually lower (5.1) than among the controls (mean of 6.8 copies). Thus, we conclude that patients with constitutional trisomy 8 and those with trisomy 8 confined to the bone marrow are both at increased risk of developing features of Behçet syndrome. The mechanism may relate to increased chromosome 8 gene dosage with further analysis of candidate genes on chromosome 8 required. © 2009 Wiley‐Liss, Inc.
International Research Symposium on Ankyloblepharon‐Ectodermal Defects‐Cleft Lip/Palate (AEC) Syndrome
Authors: Fete Mary , vanBokhoven Hans , Clements Suzanne E. , McKeon Frank , Roop Dennis R. , Koster Maranke I. , Missero Caterina , Attardi Laura D. , Lombillo Vivian A. , Ratovitski Edward , Julapalli Meena , Ruths Derek , Sybert Virginia P. , Siegfried Elaine C. , Bree Alanna F. 
Published: April 2009

AbstractAnkyloblepharon‐ectodermal defects‐cleft lip/palate (AEC) syndrome (Hay–Wells syndrome, MIM #106220) is a rare autosomal dominant ectodermal dysplasia syndrome. It is due to mutations in the TP63 gene, known to be a regulatory gene with many downstream gene targets. TP63 is important in the differentiation and proliferation of the epidermis, as well as many other processes including limb and facial development. It is also known that mutations in TP63 lead to skin erosions. These erosions, especially on the scalp, are defining features of AEC syndrome and cause significant morbidity and mortality in these patients. It was this fact that led to the 2003 AEC Skin Erosion Workshop. That conference laid the groundwork for the International Research Symposium for AEC Syndrome held at Texas Children's Hospital in 2006. The conference brought together the largest cohort of individuals with AEC syndrome, along with a multitude of physicians and scientists. The overarching goals were to define the clinical and pathologic findings for improved diagnostic criteria, to obtain tissue samples for further study and to define future research directions. The symposium was successful in accomplishing these aims as detailed in this conference report. Following our report, we also present 11 manuscripts within this special section that outline the collective clinical, pathologic, and mutational data from 18 individuals enrolled in the concurrent Baylor College of Medicine IRB‐approved protocol: Characterization of AEC syndrome. These collaborative findings will hopefully provide a stepping‐stone to future translational projects of TP63 and TP63‐related syndromes. © 2009 Wiley‐Liss, Inc.
Vertebral fusion in a patient with supernumerary‐der(22)t(11;22) syndrome
Authors: Toyoshima Mitsuo , Yonee Chihiro , Maegaki Yoshihiro , Yamamoto Toshiyuki , Shimojima Keiko , Maruyama Shinsuke , Kawano Yoshifumi 
Published: April 2009

AbstractA patient with a 47,XX,+der(22)t(11;22)(q23.3;q11.2) karyotype exhibited brisk tendon reflex and Babinski sign with suggested pyramidal sign. A three‐dimensional computed tomographic reconstruction revealed a T1‐T2 vertebral fusion without hemivertebrae. Sagittal magnetic resonance imaging revealed degenerative disk changes, mild disk herniation, and mild spinal cord compression. Congenital vertebral fusion may be one of the anomalies in supernumerary‐der(22)t(11;22) syndrome. Once clinical diagnosis of this chromosome aberration is established, radiologic evaluation of vertebrae and spinal neuroimaging should be performed. © 2009 Wiley‐Liss, Inc.
Aortic root dilation in patients with 22q11.2 deletion syndrome
Authors: John Anitha S. , McDonald‐McGinn Donna M. , Zackai Elaine H. , Goldmuntz Elizabeth 
Published: April 2009

AbstractThe 22q11.2 deletion syndrome is characterized by a highly variable phenotype including a range of cardiac malformations. The most common cardiovascular features include a subset of conotruncal defects, perimembranous ventricular septal defects and aortic arch anomalies. This report describes a series of patients with 22q11.2 deletion syndrome with the novel cardiac finding of mild aortic root dilation. A chart review was performed on 93 patients with documented 22q11.2 deletion without significant congenital heart disease to determine the number of patients with aortic root dilation. Patients ranged in age from 1 to 13 years of age. Of these 93 patients, 10 patients were found to have aortic root dilation on a screening echocardiogram. Seven of these patients did not have any additional risk factors while three patients had a bicuspid aortic valve (BAV). Four of 10 patients had additional minor cardiac anomalies including repaired ventricular septal defect (1), patent ductus arteriosus(1), arch anomalies (1), and left pulmonary artery stenosis (1). Three patients had isolated cases of aortic root dilation. Interestingly, several of these patients did not have aortic root dilation on their initial echocardiograms. The purpose of this study is to draw attention to a novel cardiac finding in patients with 22q11.2 deletion that may be of clinical importance. Further long‐term study is warranted to assess the need for echocardiographic screening in the 22q11.2 deleted population for aortic root dilation into adolescence and adulthood. © 2009 Wiley‐Liss, Inc.
Further case of Rubinstein–Taybi syndrome due to a deletion in EP300
Authors: Foley Patricia , Bunyan David , Stratton John , Dillon Michelle , Lynch Sally Ann 
Published: April 2009

AbstractRubinstein–Taybi syndrome (RSTS) is a heterogeneous disorder with approximately 45–55% of patients showing mutations in the CREB binding protein and a further 3% of patients having mutations in EP300. We report a male child with a deletion of exons 3–8 of the EP300 gene who has RSTS. He has a milder skeletal phenotype, a finding that has been described in other cases with EP300 mutations. The mother suffered from pre‐eclampsia and HELLP syndrome in the pregnancy. She subsequently developed a mullerian tumor of her cervix 6 years after the birth of her son. © 2009 Wiley‐Liss, Inc.
A novel SIX3 mutation segregates with holoprosencephaly in a large family
Authors: Solomon Benjamin D. , Lacbawan Felicitas , Jain Mahim , Domené Sabina , Roessler Erich , Moore Cynthia , Dobyns William B. , Muenke Maximilian 
Published: April 2009

AbstractHoloprosencephaly is the most common structural malformation of the forebrain in humans and has a complex etiology including chromosomal aberrations, single gene mutations and environmental components. Here we present the pertinent clinical findings among members of an unusually large kindred ascertained over 15 years ago following the evaluation and subsequent genetic work‐up of a female infant with congenital anomalies. A genome‐wide scan and linkage analysis showed only suggestive evidence of linkage to markers on chromosome 2 among the most likely of several pedigree interpretations. We now report that a novel missense mutation in the SIX3 holoprosencephaly gene is the likely cause in this family. Molecular genetic analysis and/or clinical characterization now show that at least 15 members of this family are presumed SIX3 mutation gene carriers, with clinical manifestations ranging from phenotypically normal adults (non‐penetrance) to alobar holoprosencephaly incompatible with postnatal life. This particular family represents a seminal example of the variable manifestations of gene mutations in holoprosencephaly and difficulties encountered in their elucidation. Published 2009 Wiley‐Liss, Inc.
Palladium‐Catalyzed Insertion of α‐Diazoesters into Vinyl Halides To Generate α,β‐Unsaturated γ‐Amino Esters
Authors: Kudirka Romas , Devine Sean K. J. , Adams Christopher S. , Van Vranken David L. 
Published: April 2009

AbstractSo einfach wie auf drei zu zählen: Eine Palladium‐katalysierte Dreikomponentenkupplung erzeugt in einem Schritt α,β‐ungesättigte γ‐Aminosäuren (siehe Schema). Die Reaktion umfasst vermutlich die Wanderung eines Vinylsubstituenten zu einem hoch elektrophilen Palladiumcarben. Anders als herkömmliche Verfahren bietet diese Synthese Zugang zu γ‐Aminosäuren mit nichtnatürlichen Seitenketten.magnified image
Dual‐Function Probe to Detect Protease Activity for Fluorescence Measurement and 19F MRI
Authors: Mizukami Shin , Takikawa Rika , Sugihara Fuminori , Shirakawa Masahiro , Kikuchi Kazuya 
Published: April 2009

AbstractDynamisches Duo: Die Kernspintomographie (MRI) kann tiefliegendes Gewebe in vivo visualisieren, während Fluoreszenzmessungen ausgezeichnete Empfindlichkeiten bieten. Die kombinierte Verwendung beider Methoden ermöglicht Signalverstärkungen, die zur Detektion von Enzymaktivitäten ausreichen. Eine Zweikanalsonde zur Detektion der Caspase‐3‐Aktivität durch Fluoreszenzspektroskopie und 19F‐MRI wird vorgestellt.magnified image
Formal Total Synthesis of Platencin
Authors: Varseev Georgy N. , Maier Martin E. 
Published: April 2009

AbstractDer richtige Bicyclus: Die effiziente sauerstoffvermittelte palladiumkatalysierte Cycloalkenylierung von 1 zu einem Bicyclo[3.2.1]octan und die desoxygenierende Umlagerung des Tosylhydrazons 2 zum Bicyclo[2.2.2]octan 3 sind wesentliche Schritte der Synthese der Kernstruktur 4 von Platencin, deren Gesamtausbeute nach 13 Stufen ausgehend von einer käuflich erhältlichen Verbindung 17.5 % betrug. Ts=p‐Toluolsulfonyl, TBS=tert‐Butyldimethylsilyl, Piv=Pivaloyl.magnified image
Licht am Ende des Tunnels
Authors: Heilemann Mike 
Published: April 2009

AbstractDie Kinetik der Synthese, Faltung und Reifung einzelner Moleküle des grün fluoreszierenden Proteins (GFP) wurde an einem Translations‐Transkriptions‐System in vitro mithilfe von Einzelmolekülmikroskopie untersucht. Dazu wurden einzelne, mit einem roten Fluoreszenzfarbstoff markierte Ribosomen auf einer Oberfläche angebracht. Vollständig gereifte GFP‐Emerald‐Moleküle wurden anhand ihrer grünen Fluoreszenz erkannt.magnified image
1,4‐Bis(alkenyl)‐2,5‐dipiperidinobenzenes: Minimal Fluorophores Exhibiting Highly Efficient Emission in the Solid State
Authors: Shimizu Masaki , Takeda Youhei , Higashi Masahiro , Hiyama Tamejiro 
Published: April 2009

AbstractMinimale Anforderung: Kristalle und dünne Filme von 1,4‐Bis(alkenyl)‐2,5‐dipiperidinobenzolen, die lediglich einen Benzolring als aromatische Komponente enthalten, emittieren sichtbares Licht mit hervorragenden Quantenausbeuten, wenn sie mit UV‐Licht bestrahlt werden. Mit diesen Verbindungen dotierte dünne Polystyrolfilme fluoreszieren ebenfalls kräftig. Durch Variation der Alkenylgruppen werden Farben im Bereich zwischen Blau und Rot erzielt.magnified image
Chiral Recognition of Hybrid Metal Oxide by Peptides
Authors: Micoine Kévin , Hasenknopf Bernold , Thorimbert Serge , Lacôte Emmanuel , Malacria Max 
Published: April 2009

AbstractResolution of gram quantities of a subtly chiral polyoxometalate (POM; the chirality originates from substitution of one metal in the nanosized framework) is possible by reaction with small peptides. Functionalizable acyl polyoxotungstate (TBA)6[α1‐P2W17O61{SnCH2CH2C(O)}] (see picture) can be resolved by kinetic resolution. This approach paves the way for applications of chiral POMs ranging from asymmetric catalysis to their bioactivity.magnified image
A Spherical Molecule with a Carbon‐Free Ih‐C80 Topological Framework
Authors: Scheer Manfred , Schindler Andrea , Gröger Christian , Virovets Alexander V. , Peresypkina Eugenia V. 
Published: April 2009

AbstractThe complete encapsulation of ortho‐carborane by a fullerene‐like building‐block system consisting of pentaphosphaferrocene and CuICl leads to the formation of the spherical supermolecule C2B10H12§[{Cp*Fe(η5‐P5)}12(CuCl)20]. This product of template‐controlled aggregation represents the first example of a carbon‐free C80 analogue possessing icosahedral symmetry.magnified image
Light at the End of the Tunnel
Authors: Heilemann Mike 
Published: April 2009

AbstractTurn the light on: The synthesis, folding and maturation kinetics of individual green fluorescent protein (GFP) molecules have been studied using a cell‐free transcription–translation system and single‐molecule fluorescence. Ribosomes, which were labeled with a red fluorophore and tethered to a glass surface, were used to synthesize GFP Emerald molecules that become fluorescent after maturation.magnified image
Olive‐Shaped Chiral Supramolecules: Simultaneous Self‐Assembly of Heptameric Lanthanum Clusters and Carbon Dioxide Fixation
Authors: Tang Xiao‐Liang , Wang Wen‐Hua , Dou Wei , Jiang Jie , Liu Wei‐Sheng , Qin Wen‐Wu , Zhang Guo‐Lin , Zhang Hong‐Rui , Yu Kai‐Bei , Zheng Li‐Min 
Published: April 2009

AbstractCluster's last stand: Six chiral reduced Schiff base ligands containing amino acids and seven LaIII ions self‐assemble to form a novel heptameric lanthanum supramolecule with the aid of the CO32− ion (see picture). The cluster exists as a single chiral triple helix. The CO32− ion, which is derived from atmospheric CO2 , adopts a rare μ3‐tridentate bridging mode that links three LaIII ions, thus allowing the cluster to efficiently fix CO2.magnified image
1,4‐Bis(alkenyl)‐2,5‐dipiperidinobenzenes: Minimal Fluorophores Exhibiting Highly Efficient Emission in the Solid State
Authors: Shimizu Masaki , Takeda Youhei , Higashi Masahiro , Hiyama Tamejiro 
Published: April 2009

AbstractMinimum requirements: Crystals and thin films of 1,4‐bis(alkenyl)‐2,5‐dipiperidinobenzenes, which contain only one benzene ring as the aromatic component, emit visible light with excellent solid‐state quantum yields upon irradiation with UV light. Polystyrene thin films doped with the benzenes also exhibit brilliant fluorescence. By modifying the alkenyl groups, the emission color can be tuned in the range from blue to red.magnified image
Inside Cover: Synthesis and Biological Activity of Argiotoxin 636 and Analogues: Selective Antagonists for Ionotropic Glutamate Receptors (Angew. Chem. Int. Ed. 17/2009)
Authors: Nelson Jared K. , Frølund Sidsel U. , Tikhonov Dennis B. , Kristensen Anders S. , Strømgaard Kristian 
Published: April 2009

AbstractSpiders of the genus Argiope, such as Argiope lobata, contain polyamine toxins that are potent but nonselective blockers of glutamate receptors. However, by very subtle modifications of the structure of native toxins, it is possible to obtain selectivity for subtypes of these receptors, as described by K. Strømgaard and co‐workers in their Communication on page 3087 ff.magnified image
Hormonal and nutritional regulation of insect fat body development and function
Authors: Liu Ying , Liu Hanhan , Liu Shumin , Wang Sheng , Jiang Rong‐Jing , Li Sheng 
Published: April 2009

AbstractThe insect fat body is an organ analogue to vertebrate adipose tissue and liver and functions as a major organ for nutrient storage and energy metabolism. Similar to other larval organs, fat body undergoes a developmental “remodeling” process during the period of insect metamorphosis, with the massive destruction of obsolete larval tissues by programmed cell death and the simultaneous growth and differentiation of adult tissues from small clusters of progenitor cells. Genetic ablation of Drosophila fat body cells during larval‐pupal transition results in lethality at the late pupal stage and changes sizes of other larval organs indicating that fat body is the center for pupal development and adult formation. Fat body development and function are largely regulated by several hormonal (i.e. insulin and ecdysteroids) and nutritional signals, including oncogenes and tumor suppressors in these pathways. Combining silkworm physiology with fruitfly genetics might provide a valuable system to understand the mystery of hormonal regulation of insect fat body development and function. © 2009 Wiley Periodicals, Inc.