bluuebunny/crossref_metadata_2025_split huggingface dataset:
Researching the biology of PXE: Partnering in the process
Authors: Terry Sharon F. , Boyd Charles D. 
Published: October 2002

AbstractPXE International, a disease advocacy group, plays a central role as a catalyst in several research initiatives focused on the biology, epidemiology, and genetics of pseudoxanthoma elasticum (PXE). These initiatives accelerate research on PXE and provide a basis for several productive collaborative partnerships, including a particularly successful professional relationship between PXE International and the Laboratory of Matrix Pathobiology at the University of Hawaii. This partnership was critical in discovering the PXE gene and in beginning the elucidation of the pathobiology of this genetic disorder. Examination of some of the elements of this partnership may be useful for other lay advocacy/professional collaborations. © 2001 Wiley‐Liss, Inc.
A dimensional impulsive‐aggressive phenotype is associated with the A218C polymorphism of the tryptophan hydroxylase gene: A pilot study in well‐characterized impulsive inpatients
Authors: Staner Luc , Uyanik Gökhan , Correa Humberto , Tremeau Fabien , Monreal José , Crocq Marc‐Antoine , Stefos Grigori , Morris‐Rosendahl Deborah J. , Macher Jean Paul 
Published: October 2002

AbstractTryptophan hydroxylase (TPH) is the rate‐limiting enzyme in the biosynthesis of serotonin, and association and linkage studies of its variants in suicidal and impulsive‐aggressive behavior have brought conflicting results. This pilot study was designed to investigate whether TPH A218C genotypes could be associated with impulsive behavioral tendencies (IBTs) in consecutively admitted nonpsychotic nonorganic inpatients. Patients (20 females and 34 males; age, 38.8 ± 11.8) did not differ from healthy nonimpulsive controls (16 females and 11 males; age, 35.2 ± 10.2) regarding TPH genotypes, but in the patients, the number of IBT was related to the presence of the 218C allele. It was concluded that impulsive‐aggressive behavior may be associated with the TPH genotype in well‐characterized impulsive patients and that the present results stress the importance of considering impulsiveness‐aggressiveness in studies investigating the relationship between suicidal behavior and TPH genotypes. © 2002 Wiley‐Liss, Inc.
Possible association of a cholecystokinin promoter variant to schizophrenia
Authors: Wang Zhewu , Wassink Thomas , Andreasen Nancy C. , Crowe Raymond R. 
Published: October 2002

AbstractSeveral lines of research indicate a cholecystokinin (CCK) deficit in schizophrenia patients. A C to T substitution was found in the promoter region of the CCK gene. We investigated this promoter variant in patients with schizophrenia and geographically‐matchedcontrols. The T allele was detected in 24% of the 85 schizophrenics and 16% of the 247 controls. No significant difference in the T allele frequency was found between patients and controls (χ2 = 2.77, P > 0.1). The schizophrenia sample was analyzed further along the dimensions of positive and negative symptoms. The patients with prominent negative symptoms presented a statistically significant association to the T allele (χ2 = 4.13, P < 0.04). However, the significance disappeared after the Bonferroni correction (P > 0.15). Since the case‐control analysis may present incorrect ethnic match between cases and controls, we applied the family‐based tests to verify the above findings. Both transmission disequilibrium test (TDT; χ2 = 5.33, P < 0.025 in 12 trios) and haplotype relative risk (HRR; χ2 = 3.844, P < 0.05 in 60 trios) indicated a significantly high transmission of T allele to schizophrenia offspring probands from their parents. While our family‐based tests seem to support the CCK involvement in schizophrenia, no definite conclusion can be drawn based on such a small sample size. This preliminary finding is subjected to future investigations. © 2002 Wiley‐Liss, Inc.
Auditory canal atresia, humeroscapular synostosis, and other skeletal abnormalities: Confirmation of the autosomal recessive “SAMS” syndrome
Authors: ter Heide Henriette , Bulstra Sjoerd K. , Reekers Ad , Schrander Jaap J.P. , Schrander‐Stumpel Constance T.R.M. 
Published: October 2002

AbstractA second girl with the unique combination of auditory canal atresia and scapulohumeral synostosis is reported. This patient also had bilateral clubfeet and genital abnormalities. The other patient reported with this syndrome and the presently reported child both had consanguineous parents. Mental development was normal in both children. The acronym SAMS (Short stature, Auditory canal atresia, Mandibular hypoplasia, and Skeletal abnormalities) was suggested to describe the main manifestations in this syndrome. © 2002 Wiley‐Liss, Inc.
Clinical, cytogenetic, and molecular findings in 45,X/47,XX,+18 mosaicism: Clinical report and review of the literature
Authors: Schubert Regine , Eggermann Thomas , Hofstaetter Cornelia , von Netzer Barbara , Knöpfle Gisela , Schwanitz Gesa 
Published: October 2002

AbstractWe report cytogenetic and molecular findings performed in a patient with double mosaic aneuploidy. Chromosome analysis of amniotic fluid cells from a 17‐week‐old fetus was performed because of advanced maternal age. Two karyotypes were detected: 45,X and 47,XX,+18 (50:50%). The same cell lines were determined in uncultured and cultured amniocytes of a second amniotic fluid sample, in fetal lymphocytes, and in uncultured and cultured cells of achilles tendon by conventional cytogenetics and fluorescence in situ hybridization (FISH). In the different investigated tissues, the percentage of cells with 45,X karyotype ranged from 20–99% and the percentage of cells with 47,XX,+18 ranged from 1–80%. The pregnancy was terminated at 22 + 0 weeks because of a severe cardiac malformation. Pathologic examination showed a fetus with aspects typical for manifestation of trisomy 18 and monosomy X, especially in the internal organs. The parent and cell stage of origin was determined by short tandem repeat typing and revealed a maternal meiotic division error that led to trisomy 18, as well as a somatic loss of a paternal sex chromosome. Only two other patients with the same mosaicism have been reported so far. Genetic counseling and prognosis remains challenging. © 2002 Wiley‐Liss, Inc.
Supernumerary marker chromosomes 5: Confirmation of a critical region and resultant phenotype
Authors: D'Amato Sizonenko Loredana , Ng Daniel , Oei Paul , Winship Ingrid 
Published: October 2002

AbstractA critical region exists at 5p13 for the phenotype associated with duplication 5p. Two unrelated Polynesian children are reported with supernumerary marker chromosomes (SMCs) 5. This brings to seven the total of reported SMCs derived from chromosome 5. The phenotype is clear, and the level of mosaicism of the marker chromosomes is contributory to the clinical severity. © 2002 Wiley‐Liss, Inc.
Facial appearance in persistent hyperinsulinemic hypoglycemia
Authors: de Lonlay Pascale , Cormier‐Daire Valérie , Amiel Jeanne , Touati Guy , Goldenberg Alice , Fournet Jean‐Christophe , Brunelle Francis , Nihoul‐Fékété Claire , Rahier Jacques , Junien Claudine , Robert Jean‐Jacques , Saudubray Jean‐Marie 
Published: October 2002

AbstractPersistent hyperinsulinism is the most common cause of recurrent hypoglycemia in infancy because of inappropriate oversecretion of insulin by the pancreas. Pancreatic lesions can be either focal or diffuse, and they have distinct molecular bases. We have studied the facial features in 17 unrelated patients presenting with neonatal (n = 8) or infancy‐onset (n = 9) hyperinsulinism. Hyperinsulinism was related to focal adenomatous hyperplasia (n = 7), diffuse hyperinsulinism (n = 5), non‐operated hyperinsulinism (n = 2), and hyperinsulinism with hyperammonemia (n = 3). SUR1 or Kir6.2 mutations were found in six of seven focal adenomatous hyperplasia and three of five diffuse hyperinsulinism. A loss of the maternal allele from chromosome 11p15 in the lesion was found in all focal adenomatous hyperplasia. GLUD1 mutations were found in all patients with hyperammonemia. Large birth weight (mean > 3,800 g) was consistently observed (11/17) but protruding tongue, exomphalos, or visceromegaly were never noted and Wiedemann‐Beckwith syndrome could always be ruled out. All patients presented with high forehead, small nasal tip, and short columella giving the impression that the nose is large and bulbous, smooth philtrum, and thin upper lip. A square appearance to the face was more obvious in younger patients. These specific facial features, observed in patients with hyperinsulinism of various molecular mechanisms, could be the consequence of fetal intoxication by insulin. However, to date, facial anomalies have not been noted in infants of diabetic mothers and inversely, malformations that are commonly reported in infants of diabetic mothers were not present in our hyperinsulinemic patients. © 2002 Wiley‐Liss, Inc.
Mutations in the XPD gene in xeroderma pigmentosum group D cell strains: Confirmation of genotype‐phenotype correlation
Authors: Kobayashi Takehiro , Uchiyama Makoto , Fukuro Shuhei , Tanaka Kiyoji 
Published: October 2002

AbstractXeroderma pigmentosum (XP) is a sun‐sensitive and cancer‐prone genetic disorder consisting of seven genetically distinct complementation groups (groups A–G). XP group D (XP‐D) is a heterogeneous group. Mutations in the XPD gene (XPD) can exhibit three distinct clinical phenotypes: XP, trichothiodystrophy (TTD), or XP combined with Cockayne syndrome. XPD protein is required for both nucleotide excision repair (NER) and basal transcription. Therefore, different mutations in XPD may affect NER and transcription activities to various degrees and result in such diverse phenotypes. In this study, we identified six causative mutations, two of which have not been described, in five XP‐D cell strains tested. The cell strains were all compound heterozygotes with different mutations. In all cell strains, one allele was thought to be functionally null and the other was a less severe allele with R683W, R683Q, and R666W substitutions. The second allele in each strain was specific to the XP phenotype. The findings are consistent with the hypothesis that the site of mutation of the XPD gene determines the clinical phenotype, XP or TTD. © 2002 Wiley‐Liss, Inc.
Wolcott‐Rallison syndrome in two siblings with isolated central hypothyroidism
Authors: Bin‐Abbas Bassam , Al‐Mulhim Abdulmohsen , Al‐Ashwal Abdullah 
Published: October 2002

AbstractTwo sibs with an infantile onset of hyperglycemia, recurrent hepatitis, renal insufficiency, developmental delay, and skeletal epiphyseal dysplasia are described. Clinical presentation and radiological features are suggestive of Wolcott‐Rallison syndrome, a rare autosomal recessive disease. In both of our cases we found evidence of central hypothyroidism, which appears to be an associated feature of this syndrome. Hypothyroidism should be suspected and screened for in all cases of Wolcott‐Rallison syndrome. © 2002 Wiley‐Liss, Inc.
A 45,X sterile male with Yp disguised as 21p
Authors: Dávalos Ingrid P. , Rivera Horacio , Vásquez Ana I. , Gutiérrez‐Angulo Melva , Hernández‐Vázquez Martha C. , Cortina‐Luna Fidel A. , Wong‐Ley Luis E. , Domínguez‐Quezada María G. 
Published: October 2002

AbstractAn azoospermic male was found to have, by means of banding techniques, a 45,X karyotype including a monocentric chromosome 21 with an euchromatic short arm that looked similar to Yp. This rearranged chromosome was further characterized by FISH with a whole Y chromosome paint and the alphoid repeats DYZ3 and D13Z1/D21Z1; the former probe gave a positive signal onto such a peculiar arm without spreading into the long arm, whereas the alphoid repeats revealed an apparent compound centromere with Y‐ and 21‐sequences. Therefore, an unbalanced Y;21 whole arm translocation was concluded and the karyotype written as 45,X.ish der(Y;21)(p10;q10)(wcpY+,DYZ3+,D13Z1/D21Z1+). This patient represents the first case of a Y;21 translocation in an apparent 45,X male, constitutes the fifth instance of a 45,X sterile male, and conforms to previously established karyotype‐phenotype correlations. © 2002 Wiley‐Liss, Inc.
Genes and translocations involved in POF
Authors: Schlessinger David , Herrera Luisa , Crisponi Laura , Mumm Steven , Percesepe Antonio , Pellegrini Massimo , Pilia Giuseppe , Forabosco Antonino 
Published: October 2002

AbstractChanges at a single autosomal locus and many X‐linked loci have been implicated in women with gonadal dysgenesis [premature ovarian failure (POF) with deficits in ovarian follicles]. For the chromosome 3 locus, a forkhead transcription factor gene (FOXL2) has been identified, in which lesions result in decreased follicles by haploinsufficiency. In contrast, sporadic X; autosomal translocations are distributed at many points on the X, but concentrate in a critical region on Xq. The association of the breakpoints with genes involved in ovarian function is thus far weak (in four analyzed cases) and has not been related to pathology in other POF patients. While many more translocations can be analyzed in detail as the human genome sequence is refined, it remains possible that translocations like X monosomy (Turner syndrome) lead to POF not by interrupting specific genes important in ovarian development, but by causing aberrations in pairing or X‐inactivation during folliculogenesis. It is noted that the critical region has unusual features, neighboring the X‐inactivation center and including an 18 Mb region of very low recombination. These suggest that chromosome dynamics in the region may be sensitive to structural changes, and when modified by translocations might provoke apoptosis at meiotic checkpoints. Choices among models for the etiology of POF should be feasible based on studies of ovarian follicle development and attrition in mouse models. Studies would prominently include gene expression profiling of developmental‐specific pathways in nascent ovaries with controlled levels of Foxl2 and interacting proteins, or with defined changes in the X chromosome. Published 2002 Wiley‐Liss, Inc.
Fine mapping of the IBD1 locus did not identify Crohn disease‐associated NOD2 variants: Implications for complex disease genetics
Authors: van Heel David A. , McGovern Dermot P.B. , Cardon Lon R. , Dechairo Bryan M. , Lench Nicholas J. , Carey Alisoun H. , Jewell Derek P. 
Published: October 2002

AbstractCrohn disease (CD) is a chronic relapsing inflammatory condition of the gastrointestinal tract. Recently, polymorphisms in NOD2 (CARD15), a gene mapping to the chromosome 16 IBD1 susceptibility locus, have been associated with susceptibility to CD. One group identified the gene by using classic positional cloning methods. Here, we report linkage and fine mapping analyses using 27 microsatellite markers encompassing the IBD1 susceptibility locus in 131 CD affected sibling pairs, and a simplex family cohort. No evidence for linkage was observed, and microsatellite markers close to NOD2 did not show association. However, significant association was confirmed in 294 CD trios for the NOD2 variants Arg702Trp and Leu1007fsinsC. Our fine mapping study of the IBD1 locus did not enable us to identify NOD2 as a CD gene, despite the presence of association with disease‐causing alleles. This study illustrates the difficulties facing microsatellite linkage and linkage disequilibrium mapping methods for identifying disease genes in complex traits. © 2002 Wiley‐Liss, Inc.
Lack of association of a single‐nucleotide polymorphism of the μ‐opioid receptor gene with anxiety‐related traits: Results from a cross‐sectional study of adults and a longitudinal study of children
Authors: Jorm Anthony F. , Prior Margot , Sanson Ann , Smart Diana , Zhang Yafei , Tan Susan , Easteal Simon 
Published: October 2002

AbstractThere is evidence from animal experiments that the μ‐ and δ‐opioid receptors may play a role in anxiety and depression. It might therefore be expected that functional polymorphisms of these genes in humans are associated with anxiety and depression. We investigated a single‐nucleotide polymorphism (Asn40Asp) of the μ‐opioid receptor gene (OPRM1). This association was investigated in two samples: 1) a cross‐sectional survey of 867 community‐living adults aged 18–79 years who were assessed for anxiety and depression symptoms and related personality traits; and 2) a longitudinal study of childhood temperament in which 660 children were followed from infancy to the mid‐teens and assessed for anxiety‐related temperament and behavior problems. The data did not support a role for the Asn40Asp polymorphism in anxiety and depression, despite adequate statistical power to detect small effects. © 2002 Wiley‐Liss, Inc.
Allele sharing for schizophrenia and schizo‐affective disorder within a region of Homo sapiens specific XY homology
Authors: Nicholson Timothy R.J. , Yang Jian , DeLisi Lynn E. , Crow Timothy J. 
Published: October 2002

AbstractA case (based upon an association with cerebral asymmetry) has been presented for a gene for psychosis within the Xq21.3/Yp region of homology that is specific to Homo sapiens. We tested this hypothesis using the pentanucleotide marker DXYS 156 that is located within this region. In 84 families affected by schizophrenia or schizo‐affective disorder no tendency toward increased allele sharing amongst siblings was observed (χ2 = 0.002). We conclude either that this region does not include a gene predisposing to psychosis or that if it does, the relevant variation is epigenetic rather than sequence‐based. With respect to the latter possibility we draw attention to the recent evolutionary history of the Xq21.3/Yp region. Genes within the region are in transition to protection from X inactivation and therefore may be epigenetically labile. © 2002 Wiley‐Liss, Inc.
No association between the neuronal nitric oxide synthase gene polymorphism and Alzheimer Disease
Authors: Liou Ying‐Jay , Hong Chen‐Jee , Liu Hsiu‐Chih , Liu Chia‐Yih , Liu Tsung‐Yun , Chen I‐Chun , Tsai Shih‐Jen 
Published: October 2002

AbstractNitric oxide synthase (NOS) has been implicated in the pathogenesis of Alzheimer disease (AD). To examine the role of the neuronal NOS (nNOS) gene in AD, patients (n = 139) and control subjects (n = 101) were genotyped for the nNOS dinucleotide polymorphism. No association was demonstrated for AD and this particular nNOS polymorphism. © 2002 Wiley‐Liss, Inc.
Chromosome imbalances associated with epilepsy
Authors: Schinzel Albert , Niedrist Dunja 
Published: October 2002

AbstractEpilepsy is among the most frequent findings in many, especially autosomal, chromosome aberrations. Its incidence, however, is very variable, and there are very few aberrations in which epilepsy is a constant finding. Even siblings and monozygotic twins with the same aberration are often discordant for seizure disorders. Similar observations can be made for congenital (major) malformations in chromosome aberrations. The common explanation is that in these instances epilepsy is not caused by the action of a single gene in single or triple dose, but is influenced by the combined action of a number of genes within and outside of the aneuploid segment. The situation is comparable to a polygenic model of inheritance. Gene mutations associated with epilepsy are known, to date, only for two disorders: the lissencephaly 1 gene in Miller‐Dieker syndrome and mutations in theUBE3Agene in Angelman syndrome. Chromosome aberrations in which epilepsy is a major and consistent finding include Angelman syndrome due to loss of the maternal 15q11.2‐q12 segment, tetrasomy of the maternal segment 15pter‐q13 due to an additional inv dup chromosome, Miller‐Dieker syndrome due to deletion of the 17p13.3 segment including the lissencephaly1 gene, ring chromosome 20, and Wolf‐Hirschhorn syndrome due to deletion of at least the 4p16.3 segment. © 2001 Wiley‐Liss, Inc.
Influence of lean body mass on performance differences of male and female distance runners in warm, humid environments
Authors: Wright Alison , Marino Frank E. , Kay Derek , Micalos Peter , Fanning Carlie , Cannon Jack , Noakes Timothy D. 
Published: October 2002

AbstractThe purpose of this investigation was to evaluate the influence of lean body mass (LBM) and body weight (BW) on the thermoregulatory responses and endurance performance of male and female athletes in warm, humid environments. Ten (5 males, 5 females) healthy, moderately trained athletes with varying physiques performed a self‐paced 30‐min run on a motorized treadmill in warm (30°C), humid (60% relative humidity) conditions, with the aim of running the greatest distance possible. Males completed one trial, while females completed two trials, one in each of the follicular (Fol) and luteal (Lut) phases of the menstrual cycle in a randomized fashion. There were no significant differences among groups for distance run (males, 5.2 ± 0.4 km; Fol, 4.9 ± 0.1 km; Lut, 4.7 ± 0.1 km). However, following analysis of covariance accounting for LBM and BW, the distances run were significantly different. The adjusted means for distance run after accounting for LBM were 3.4 km for males (P < 0.05), 5.9 km for Fol, and 5.6 km for Lut. Adjusted means accounting for BW resulted in run distances of 6.5 km for males (P < 0.05), 4.2 km for Fol, and 4.0 km for Lut. Thermoregulatory responses such as rectal and skin temperatures were similar among groups. Avenues of heat loss and gain were altered relative to the menstrual cycle phase. The results suggest that one reason for the disparity in performance between male and female athletes over similar race distances might in part be related to unequal body characteristics and in particular to differences in LBM. Am J Phys Anthropol 118:285–291, 2002. © 2002 Wiley‐Liss, Inc.
Are all grandmothers equal? A review and a preliminary test of the “grandmother hypothesis” in Tokugawa Japan
Authors: Jamison Cheryl Sorenson , Cornell Laurel L. , Jamison Paul L. , Nakazato Hideki 
Published: October 2002

AbstractAn unresolved question arising from human evolutionary research relates to the function of the postreproductive period in human females. If menopause is not merely an artifact resulting from the benefits of civilization, there must be an adaptive mechanism favoring the offspring of women who continue to thrive well past the time of their last ovulation. The “grandmother hypothesis” was developed on the basis of the original suggestion by Williams (1957 Evolution 11:32–39) that “stopping early” would benefit already‐born children. This idea, combined with the concepts of kin selection (Hamilton 1964 J Theor Biol 7:1–52) and parental investment (Trivers 1972 Sexual Selection and the Descent of Man, Chicago: Aldine, p. 136–179), was expanded to suggest that postreproductive women (in contrast to males) contribute to their inclusive fitness by extending support to their grandchildren.We used discrete time event history analysis (Allison [1984] Event History Analysis, Newbury Park: Sage; Allison [1995] Survival Analysis, Cary, NC: SAS Institute) and logistic regression on data provided in population registers (Shūmon Aratame Chō, or SAC) from a village in central Japan, covering the period from 1671–1871, in a preliminary investigation of the effects of household grandparental presence on the probability of a child's death. We found that after accounting for the presence of other household members, the only grandparent whose presence exerted a consistent negative effect on the likelihood of a child's death was the mother's mother. Due to the small sample size of households that contained maternal grandmothers, these results failed to achieve statistical significance. Their importance, however, is in what they suggest about future research, i.e., census data from preindustrial societies can provide a basis for testing evolutionary proposals, including the “grandmother hypothesis.” Am J Phys Anthropol 119:67–76, 2002. © 2002 Wiley‐Liss, Inc.