bluuebunny/crossref_metadata_2025_split huggingface dataset:
Initiation codon mutation in an Asian Indian family
Authors: Gupta Anju , Hattori Yukio , Agarwal Sarita 
Published: October 2002

AbstractThe β‐thalassemias are a heterogeneous group of hereditary anemias. A multitude of mutations have been reported, resulting in varied phenotypes. In each ethnic group there is always a subset of common, less common, and rare mutations, which makes population screening, prenatal diagnosis, and genetic counseling easier. In this paper we report a rare β‐thalassemia mutation found in an Indian subject by SSCP and sequencing analysis. The mutation, initiation ATG → ACG, was found in heterozygous condition in a patient belonging to Brahmin family of Uttar Pradesh origin. Haplotype analysis was performed to identify the chromosomal background associated with the mutation and to tracing the origin and spread of the mutation. This study, as previous studies, suggests that rare β‐thalassemia mutations, such as the initiation codon mutations, have no set geographical distribution and are relatively recent. Am. J. Hematol. 71:134–136, 2002. © 2002 Wiley‐Liss, Inc.
Molecular and hematological characterization of HPFH‐6/Indian deletion–inversion Gγ(Aγδβ)0‐thalassemia and Gγ(Aγδβ)0‐thalassemia/HbE in Thai patients
Authors: Fucharoen Supan , Pengjam Yutthana , Surapot Satja , Fucharoen Goonnapa , Sanchaisuriya Kanokwan 
Published: October 2002

AbstractThe hereditary persistence of fetal hemoglobin (HPFH)‐6 is sporadically found in Thailand whereas the deletion–inversion type Gγ(Aγδβ)0‐thalassemia is described among Indians. We report a hitherto un‐described case in which these two defects co‐segregate. He was a 3‐year‐old Thai boy who had a feature of thalassemia intermedia phenotype with the following hematologic data; Hb 8.8 g/dL, Hct 29.2%, MCV 66.9 fL, MCH 20 pg, and MCHC 30.1 g/dL. Hemoglobin analysis revealed 100% Hb F with only Gγ‐globin chain. Globin gene analyses demonstrated that he carried the HPFH‐6 deletion in trans to the Indian deletion–inversion Gγ(Aγδβ)0‐thalassemia. Hematologic data of the patient was compared to those of the HPFH‐6 heterozygote found in his father, to Gγ(Aγδβ)0‐thalassemia heterozygotes detected in his mother and sister, and to that of an unrelated Thai patient who was a compound heterozygote for the deletion–inversion Gγ(Aγδβ)0‐thalassemia and HbE. Am. J. Hematol. 71:109–113, 2002. © 2002 Wiley‐Liss, Inc.
Posterior urethral valves and mirror image anomalies in monozygotic twins
Authors: Morini Francesco , Ilari Michele , Casati Alessandra , Piserà Antonietta , Oriolo Lucia , Cozzi Denis A. 
Published: October 2002

AbstractMonozygotic (MZ) twins with both posterior urethral valves (PUV) and additional mirror image malformations are described. This association suggests that an early embryonic event may lead to MZ twinning, PUV, and mirror image anomalies. © 2002 Wiley‐Liss, Inc.
Clinical phenotype and molecular diagnosis of multiple epiphyseal dysplasia with relative hip sparing during childhood (EDM2)
Authors: Fiedler J. , Stöve J. , Heber F. , Brenner R.E. 
Published: October 2002

AbstractWe report on a family of 19 individuals over four generations in which 12 members are affected with a variant of multiple epiphyseal dysplasia. Beginning in childhood, the disease leads to pain and stiffness of knees, ankles, elbows and finger joints. Some adult patients repeatedly suffer from free articular bodies resulting in locking of the joint. Finally, affected individuals are prone to the development of early degenerative joint disease. Mutation screening of candidate regions revealed a novel point mutation at position −1 in the COL9A2 exon 3/intron 3 splicing region. This G → C substitution most probably induces an alteration of the splicing process. Family screening was carried out by both automated sequencing and by digestion of amplicons with BsaWI. We confirmed the nucleotide substitution in eight clinically affected family members as well as in three presymptomatic young children. Electron microscopy showed that the diameter of collagen fibrils from arthroscopically removed free articular bodies of two patients was not obviously different from that of normal articular cartilage. Together with previous reports our results indicate that mutations leading to skipping of exon 3 within the COL3 domain of the α2‐chain of collagen type IX may be relatively common in patients with a special subtype of multiple epiphyseal dysplasia (MED) in which the hips are not markedly affected at early age (EDM2). In these patients and their families, mutation screening of the candidate regions may help to confirm the diagnosis, lead to appropriate advice for lifestyle and well based genetic counseling. © 2002 Wiley‐Liss, Inc.
Molecular breakpoint analysis and relevance of variable mosaicism in a woman with short stature, primary amenorrhea, unilateral gonadoblastoma, and a 46,X,del(Y)(q11)/45,X karyotype
Authors: Kotzot Dieter , Dufke Andreas , Tzschach Andreas , Baeckert‐Sifeddine Iris‐Tatjana , Geppert Martin. , Holland Heidrun , Florus Jobst M. , Froster Ursula G. 
Published: October 2002

AbstractWe report on a 30‐year‐old woman with short stature, completely female external genitalia, primary amenorrhea, bilateral streak gonads, unilateral gonadoblastoma, and a 46,X,del(Y)(q11)/45,X karyotype. Variable levels of mosaicism were found in blood and cultivated fibroblasts from both the skin and ovaries, with the percentage of the 45,X lineage never exceeding 33%. Fluorescence in situ hybridization (FISH) was performed with alpha satellite centromere region probes of the X and Y chromosomes (DXZ1 and DXZ3) as well as with the unique‐sequence, locus‐specific, sex‐determining region of the Y chromosome gene (SRY) and the DXZ1 probes. Each signal was noted for DXZ1 on the X chromosome and for the Y probes on the marker chromosome. Molecular investigations with a panel of PCR markers spread over the whole Y chromosome indicated a deletion breakpoint between sY 78 (interval 4) and sY 151 (interval 5F). No mutation of the high mobility group‐box (HMG‐box) of the SRY gene could be found following sequence analysis. The phenotype/genotype correlation demonstrates the broad phenotypic range of low‐level 45,X mosaicism with the resultant short stature and external female phenotype, despite the presence of SRY in a high proportion of cells in various tissues. © 2002 Wiley‐Liss, Inc.
Exploring the clinical and epidemiological complexity of GJB2‐linked deafness
Authors: Gualandi F. , Ravani A. , Berto A. , Sensi A. , Trabanelli C. , Falciano F. , Trevisi P. , Mazzoli M. , Tibiletti M.G. , Cristofari E. , Burdo S. , Ferlini A. , Martini A. , Calzolari E. 
Published: October 2002

AbstractGJB2 mutation analysis was performed in 179 unrelated subjects with sporadic or familial hearing loss (HL). Among 57 families, 18 showed a vertical transmission of HL, the disease being present in two or three generations. Besides 155 nonsyndromic cases, 24 patients presenting with extra‐auditory clinical signs were included in the molecular study. GJB2 mutation analysis was also performed in 19 subjects with an anamnestic history of perinatal risks factors for acquired HL. The 35delG mutation accounted for 22.1% of analyzed chromosomes in sporadic cases and 39.4% in familial cases; 35delG prevalence reached 41% in autosomal recessive and 44.4% in pseudodominant pedigrees. Two novel GJB2 mutations were identified in compound heterozygosity with 35delG allele (D159V, 284ins/dup[CACGT]). Two 35delG homozygous subjects were identified among HL cases classified as environmental in origin. Four patients 35delG heterozygous (35delG/V95M, 35delG/L90P, 35delG/167delT, and 35delG/?) and two homozygous presented with extra‐auditory clinical signs involving different organs (skin, vascular system, hemopoietic lineages, and thyroid). In a high proportion of 35delG heterozygous HL patients (52%), no second GJB2 mutation was detected. The reported data highlight the complexity of the genetic epidemiology of GJB2‐linked deafness, further enlarging the spectrum of situations in which GJB2 mutation analysis should be performed. The presence of extra‐auditory signs in a significant portion of GJB2‐mutated patients suggests the possibility that GJB2 loss of function could contribute to clinical phenotypes presenting in association with deafness. This hypothesis deserves further investigation. The failure to identify a presumed partnering GJB2 mutation in a high proportion of deaf patients remains a challenging problem to be clarified. © 2002 Wiley‐Liss, Inc.
Auriculo‐condylar syndrome: Additional patients
Authors: Guion‐Almeida Maria Leine , Zechi‐Ceide Roseli Maria , Vendramini Siulan , Kokitsu‐Nakata Nancy Mizue 
Published: October 2002

AbstractThis report describes several relatives in three generations of one family and another, unrelated boy with auriculo‐condylar syndrome, a rare autosomal dominant disorder. Variation in the severity of the abnormalities was observed. We discuss the findings in our patients in relation to those in the literature. © 2002 Wiley‐Liss, Inc.
Family MRX9 revisited: Further evidence for locus heterogeneity in MRX
Authors: Winnepenninckx Birgitta , Errijgers Vanessa , Reyniers Edwin , De Deyn Peter P. , Abidi Fatima E. , Schwartz Charles E. , Kooy R. Frank 
Published: October 2002

AbstractNonspecific X‐linked mental retardation (MRX) patients are characterized by mental retardation, without additional distinguishing features. Consequently, MRX families can only be distinguished by mapping studies; yet, due to imprecise mapping studies performed in the past, the number of genes causing MRX is debatable, and a more precise localization for families is necessary to estimate this number. MRX 9 has been mapped to the pericentromeric region Xp21‐q13. We refined the mapping of the MRX9 family to Xp11.22‐Xp11.4. A sequencing analysis of three likely candidate genes in Xp11, SREB3, synapsin I, and TM4SF2, revealed no mutations. © 2002 Wiley‐Liss, Inc.
FGFs, their receptors, and human limb malformations: Clinical and molecular correlations
Authors: Wilkie Andrew O.M. , Patey Susannah J. , Kan Shih‐hsin , van den Ouweland Ans M.W. , Hamel Ben C.J. 
Published: October 2002

AbstractFibroblast growth factors (FGFs) comprise a family of 22 distinct proteins with pleiotropic signaling functions in development and homeostasis. These functions are mediated principally by four fibroblast growth factor receptors (FGFRs), members of the receptor tyrosine kinase family, with heparin glycosaminoglycan as an important cofactor. Developmental studies in chick and mouse highlight the critical role of FGF‐receptor signaling in multiple phases of limb development, including the positioning of the limb buds, the maintenance of limb bud outgrowth, the detailed patterning of the limb elements, and the growth of the long bones. Corroborating these important roles, mutations of two members of the FGFR family (FGFR1 and FGFR2) are associated with human disorders of limb patterning; in addition, mutations of FGFR3 and FGF23 affect growth of the limb bones. Analysis of FGFR2 mutations in particular reveals a complex pattern of genotype/phenotype correlation, which will be reviewed in detail. Circumstantial evidence suggests that the more severe patterning abnormalities are mediated by illegitimate paracrine signaling in the mesoderm, mediated by FGF10 or by a related FGF, and this is beginning to gain some experimental support. A further test of this hypothesis is provided by a unique family segregating two FGFR2 mutations in cis (S252L; A315S), in which severe syndactyly occurs in the absence of the craniosynostosis that typically accompanies FGFR2 mutations. © 2002 Wiley‐Liss, Inc.
Idiopathic congenital central hypoventilation syndrome: the next generation
Authors: Silvestri Jean M. , Chen Maida L. , Weese‐Mayer Debra E. , McQuitty John M. , Carveth Holly J. , Nielson Dennis W. , Borowitz Drucy , Cerny Frank 
Published: October 2002

AbstractIdiopathic congenital central hypoventilation syndrome (CCHS) is a rare disorder in which affected children have a decreased sensitivity of their respiratory centers to hypercarbia and hypoxia, as well as evidence for generalized autonomic nervous system dysfunction. A genetic origin has long been hypothesized for CCHS. Previous reports of the syndrome among twins, siblings, and half siblings, as well as an established association with Hirschsprung disease and neural crest tumors support this genetic hypothesis. Here, we present the first reported offspring born to four women diagnosed with idiopathic CCHS. Their children display a spectrum of abnormalities with one child being diagnosed with CCHS, one child with recurrent apparent life threatening events, one infant born prematurely with severe chronic lung disease and diminished ventilatory responses to carbon dioxide, and one infant who is apparently healthy with no clinical manifestations suggestive of disordered respiratory control to date. Two and potentially three of these patients illustrate transmission of altered respiratory control by CCHS patients into the next generation, furthering the evidence that CCHS is part of a broadly based inherited syndrome of autonomic nervous system dysfunction. © 2002 Wiley‐Liss, Inc.
Diet composition of chimpanzees inhabiting the Montane forest of Kahuzi, Democratic Republic of Congo
Authors: Basabose A. Kanyunyi 
Published: October 2002

AbstractThe diet of chimpanzees was investigated by direct observations, feeding remains, and fecal analysis from January 1994 to December 2000 in the montane forest of Kahuzi‐Biega National Park. A total of 171 food items were identified, among which 156 items were plant materials belonging to 114 species from 57 taxonomic families. Chimpanzees consumed 66 species of fruits (62 species of pulps and four species of seeds). Results of fecal analysis showed that fig fruits were the most frequently eaten. Their seeds occurred in 92% of a total of 7,212 chimpanzee fecal samples. The chimpanzees changed their diet according to seasonal and annual variations in both abundance and diversity of fruit species. However, they are very selective frugivores. Only a few pulp‐fruit species are regularly identified in their fecal samples. During the rainy season, when ripe fruit was scarce, chimpanzees relied heavily on piths and leaves. They swallowed leaves of two species of Commelinaceae without chewing, probably for medical purposes. Animal foods were eaten infrequently. The montane forest of Kahuzi, where chimpanzees range up to 2,600 m above sea level, may be the highest altitudinal limit ever recorded for their distribution. Compared to other chimpanzee habitats, Kahuzi has a low diversity of fruit species and the availability of a few pulp‐fruit species may be critical to the survival of Kahuzi chimpanzees. Am. J. Primatol. 58:1–21, 2002. © 2002 Wiley‐Liss, Inc.
Brief communication: Molecular analysis of the Kwäday Dän Ts'finchi ancient remains found in a glacier in Canada
Authors: Monsalve M. Victoria , Stone Anne C. , Lewis Cecil M. , Rempel Allan , Richards Michael , Straathof Dan , Devine Dana V. 
Published: October 2002

AbstractDNA was extracted from the frozen remains of a man found in the northwest corner of British Columbia, Canada, in 1999. His clothing was radiocarbon‐dated at ca. 550 years old. Nitrogen and carbon content in whole bone and collagen‐type residue extracted from both bone and muscle indicated good preservation of proteinaceous macromolecules. Restriction enzyme analysis of mitochondrial DNA (mtDNA) determined that the remains belong to haplogroup A, one of the four major Native American mtDNA haplogroups. Data obtained by PCR direct sequencing of the mtDNA control region, and by sequencing the clones from overlapping PCR products, were duplicated by an independent laboratory. Comparison of these mtDNA sequences with those of North American, Central American, South American, East Siberian, Greenlandic, and Northeast Asian populations indicates that the remains share an mtDNA type with North American, Central American, and South American populations. Am J Phys Anthropol 119:288–291, 2002. © 2002 Wiley‐Liss, Inc.
Instability of a premutation allele in homozygous patients with myotonic dystrophy type 1
Authors: Abbruzzese Claudia , Costanzi Porrini Sandro , Mariani Bruno , Gould Fiona K. , Mcabney John P. , Monckton Darren G. , Ashizawa Tetsuo , Giacanelli Manlio 
Published: October 2002

AbstractMyotonic dystrophy type 1 (DM1) is caused by the expansion of an unstable CTG repeat in the DMPK gene on chromosome 19q13.3. We present two siblings with DM1 who each inherited a premutation allele, (CTG)43, stably transmitted from the mother and a full‐mutation allele, either (CTG)500 or (CTG)180, derived from a paternal protomutation allele, (CTG)52. Small‐pool polymerase chain reaction analysis showed that the (CTG)52 repeat allele was relatively stable in somatic tissues but was highly unstable in the male germline and extremely biased toward further expansion, consistent with the high levels of anticipation observed in DM1 families. The (CTG)43 allele showed subtle somatic instability in the mother, with maximum additions of two repeats and deletions of one repeat. Conversely, in the younger affected siblings the (CTG)43 allele showed a high degree of somatic instability (approximately 70% mutation load), resulting in deletions reverting to the high end of the normal range (down to [CTG]33) and additions up to the proto‐mutation range (up to [CTG]64). The difference in the somatic stability of the (CTG)43 allele between the mother and her offspring suggests that interallelic interactions or other mechanisms in trans regulate the stability of the (CTG)43 premutation allele.
An R5L τ mutation in a subject with a progressive supranuclear palsy phenotype
Authors: Poorkaj Parvoneh , Muma Nancy A. , Zhukareva Victoria , Cochran Elizabeth J. , Shannon Kathleen M. , Hurtig Howard , Koller William C. , Bird Thomas D. , Trojanowski John Q. , Lee Virginia M.‐Y. , Schellenberg Gerard D. 
Published: October 2002

AbstractMAPT, the gene encoding tau, was screened for mutations in 96 progressive supranuclear palsy subjects. A point mutation (R5L) was identified in a single progressive supranuclear palsy subject that was not in the other progressive supranuclear palsy subjects or in 96 controls. Functionally, this mutation alters the ability of tau to promote microtubule assembly. Analysis of soluble tau from different brain regions indicates that the mutation does not affect the ratio of tau isoforms synthesized. Aggregated insoluble tau from subcortical regions was predominantly four‐repeat tau with no or one amino terminal insert (0N4R and 1N4R). Insoluble tau from cortical regions also contained 1N3R tau. Thus, the R5L mutation causes a progressive supranuclear palsy phenotype, presumably by a gain‐of‐function mechanism.
Crystallization behavior of syndiotactic polystyrene nanocomposites for melt‐ and cold‐crystallizations
Authors: Tseng Chen‐Rui , Wu Shoei‐Chin , Wu Jeng‐Jue , Chang Feng‐Chih 
Published: October 2002

AbstractAnalyses of the effects of montmorillonite (clay) on the crystallinity and crystallization behavior of syndiotactic polystyrene (s‐PS) were investigated by Fourier transform infrared (FTIR) spectroscopy and differential scanning calorimetry (DSC). The dispersibility of the clay in s‐PS nanocomposites was studied by X‐ray and transmission electron microscopy (TEM). The clay was dispersed into the s‐PS matrix by melt blending on a scale of 1–2 nm or few tenths–100 nm, depending on the surfactant treatment. On adding clay, the crystallization behavior of the s‐PS tends to convert into the β‐crystal from the α‐crystal after being cold‐crystallized because the clay plays a vital role in facilitating the formation of the thermodynamically favored β‐form crystal when the s‐PS is cold‐ or melt‐crystallized. This phenomenon leads to a change in a conventional mechanism of molecular packing for the s‐PS. Evidently, the clay significantly affects the crystallinity and crystallization behavior of the s‐PS. © 2002 Wiley Periodicals, Inc. J Appl Polym Sci 86: 2492–2501, 2002
Effect of rare earth elements' surface treatment on tensile properties and microstructure of glass fiber–reinforced polytetrafluoroethylene composites
Authors: Xue Yu‐Jun , Cheng Xian‐Hua 
Published: October 2002

AbstractThree types of surface modifiers, N‐β‐aminoethyl‐γ‐aminopropyltrimethoxysilane coupling agent (SGS), a mixture of silane and rare earth elements (SGS/RES), and rare earth elements surface modifier (RES), were used to treat the glass fiber surface. Tensile tests of glass fiber–reinforced polytetrafluoroethylene (GF/PTFE) composites with different surface treatment conditions, surface modifiers, and glass fiber content were carried out. Finally, the fracture surface morphologies of GF/PTFE composites were investigated using scanning electron microscopy. Experimental results show that the tensile properties of the treated GF/PTFE composite increased compared with those of the untreated one. RES is superior to SGS/RES and SGS modifiers in promoting interfacial adhesion between the glass fiber and PTFE because of the effects of rare earth elements on the compatibility. Meanwhile, the optimum contents of rare earth elements for the improvement of the tensile properties of GF/PTFE composite were obtained for RES and SGS/RES modifiers. The interfacial adhesion of the GF/PTFE composites treated with RES or SGS/RES modifiers was mainly controlled by the contents of rare earth elements. The tensile properties of the GF/PTFE composites improved considerably when the content of rare earth elements in surface modifiers was 0.2–0.4 wt %, and the optimum tensile performance of GF/PTFE composites was obtained at 0.3 wt % RE content. © 2002 Wiley Periodicals, Inc. J Appl Polym Sci 86: 1667–1672, 2002
Segregation of resin‐bound peptides during solid‐phase synthesis
Authors: Krishna Kumar I. M. , Mathew Beena 
Published: October 2002

AbstractTo compare the segregation ability of 1,4‐butanediol dimethacrylate‐crosslinked polystyrene (BDDMA‐PS) and divinylbenzene‐crosslinked polystyrene (DVB‐PS), a set of difficult sequence peptides characterized by high‐arithmetic‐average β‐sheet stabilizing potential (SPβ) and low‐stepwise arithmetic average random coil conformational parameter (Pc*) were synthesized on both supports (∼ 2 mmol Cl g−1) under identical conditions. The yield and purity of the peptides obtained from BDDMS‐PS resin were higher than from DVB‐PS resin. The synthetic efficiency of the new support was found to be its ability to suppress the aggregation of growing peptide chains by β‐sheet formation. © 2002 Wiley Periodicals, Inc. J Appl Polym Sci 86: 1717–1723, 2002
Improving the toughness and flame retardancy of cured epoxy resin with brominated castor oil
Authors: Xiao Weidong , He Peixin , He Benqian 
Published: October 2002

AbstractData from techniques such as limiting oxygen index, thermal analysis, scanning electron microscope, heat deformation curve, mechanical properties measurement, etc. show that cured epoxy resin modified by brominated castor oil possesses good flame retardation, toughness, moderate smoke suppression, and some degree of resistance to heat. © 2002 Wiley Periodicals, Inc. J Appl Polym Sci 86: 2530–2534, 2002