bluuebunny/crossref_metadata_2025_split huggingface dataset:
Relative order and location of DNA sequences on chromosome 21 linked to familial Alzheimer disease
Authors: Pulst Stefan‐Matthias , Yang‐Feng Teresa , Korenberg Julie R. 
Published: June 2005

AbstractRecently, a gene causing familial Alzheimer disease (FAD) was linked to DNA probes on chromosome 21 by genetic analysis. To investigate the precise physical location of these DNA probes, we have constructed a physical map of this region of chromosome 21 by using quantitative Southern blot analysis of cell lines aneuploid for parts of chromosome 21. The following DNA sequences were investigated: D21S16, D21S13, FB68L (cDNA probe for the amyloid protein precursor [APP] gene), and D21S1. We find that all DNA probes are located in the same region of chromosome 21, in q11.2‐q21.05. We further show that D21S16 must be centromeric to D21S13, because D21S16, but not D21S13 is present in one copy in a cell line with deletion of the region 21pter‐21q 11.2. High resolution chromosome analysis is presented to define this breakpoint. This new panel of aneuploid cell lines will allow the rapid mapping of new DNA probes in the vicinity of the FAD gene.
Characterization of the 5q‐ breakpoint in an acute nonlymphocytic leukemia patient using pulsed‐field gel electrophoresis
Authors: Thornton Donald E. , Theil Karl , Payson Robert , Balcerzak Stanley P. , Chiu Ing‐Ming 
Published: June 2005

AbstractMultiple genes of hematopoietic importance have been localized to the long arm of chromosome 5 including granulocyte‐macrophage colony stimulating factor (GM‐CSF) and interleukins (IL) 3, 4 and 5 to 5q23‐31, colony stimulating factor 1 (CSF1) to 5q33.1 and its receptor (c‐fms) to 5q33.3. The genes coding for platelet‐derived growth factor receptor (PDGFR) and acidic fibroblast growth factor (FGFA) have been localized to 5q31‐32 and 5q31.3‐33.2, respectively. These genes fall in the region of chromosome 5 which is deleted in the 5q‐ refractory anemia syndrome (5q‐ RA) and acute nonlymphocytic leukemia (ANLL). We have characterized this region in a 5q‐ patient with therapy‐related ANLL (t‐ANLL) by pulsed‐field gel electrophoresis and Southern blotting analysis utilizing DNA probes for PDGFR, c‐fms, and FGFA. A single 300 kbp MluI restriction fragment was detected in the patient using a PDGFR probe as compared to a 200 kbp fragment in normal controls. BssHII digestions also showed restriction fragment length difference. Similar data for both MluI and BssHII digestions were also obtained when c‐fms was used as a probe. Southern blotting analysis of EcoRI‐digested DNA showed that each of the PDGFR, c‐fms, and FGFA alleles were deleted. These results suggested that one chromosome 5 has a large deletion involving PDGFR, c‐fms and FGFA, which is consistent with the cytogenetic analysis of the patient. In contrast, the other chromosome 5, which appeared normal cytogenetically, may have a smaller deletion (or alteration) in proximity to but not involving any of these 3 genes.
Alagille syndrome with de Novo del(20) (p 11.2)
Authors: Teebi Ahmad S. , Murthy D. S. Krishna , Ismail E. A. R. , Redha A. A. 
Published: June 2005

AbstractWe report on an Arab boy with Alagille syndrome and a de novo deletion of the short arm of chromosome 20 with a 46,XY, del(20)(p11.2) chromosome constitution. Other reported cases are briefly reviewed.
Progressive bilateral nasal alar collapse: A dominantly inherited trait
Authors: Cole Heath , Bodurtha Joann , Salbert Bonnie Anne , Wolf Barry 
Published: June 2005

AbstractWe describe a 47‐year‐old woman with progressive bilateral collapse of the alae nasi first noted at age 16 years. Her dizygotic twin daughters have similar nasal collapse beginning at age 20 years. This condition appears to be inherited as a dominant trait. Although plastic surgical correction has been successful for a phenotypically similar condition due to trauma, surgical correction must be considered cautiously in individuals with an atraumative, possibly inherited, progressive form of the disorder.
Completeness of catalogs of autosomal dominant, autosomal recessive, and X‐linked phenotypes
Authors: Kate Leo P Ten 
Published: June 2005

AbstractThe completeness of McKusick's catalogs of Mendelian Inheritance in Man (MIM) as to the number of phenotypes included was studied by estimating the degree of concordance with the Dutch Gene Catalog of the Department of Medical Genetics of the University of Groningen, The Netherlands. On a total of 355 Mendelian phenotypes described in persons living in The Netherlands or originating from this country, there were nine disease entities which were not present in MIM. As judged from this comparison MIM attains 97.5% completeness (95% CI: 95.3–98.7%). Similar comparisons with data from other countries are needed before a final conclusion can be reached. Corresponding contributors in different countries or linguistic areas might further improve MIM's completeness. © 1992 Wiley‐Liss, Inc.
New autosomal recessive syndrome of sparse hair, osteopenia, and mental retardation in Mennonite sisters
Authors: Kaler Stephen G. , Garrity Ann M. , Stern Harvey J. , Rosenbaum Kenneth N. , Orrison Bonnie M. , Marini Joan C. , Bernardini Isa , Saal Howard M. 
Published: June 2005

AbstractWe report on 2 Mennonite sisters with a syndrome of sparse hair, osteopenia, mental retardation, minor facial abnormalities, joint laxity, and hypotonia. Their asymptomatic consanguineous parents (inbreeding coefficient F = 1/64) have 6 other offspring, 3 of whom died in infancy of type II osteogenesis imperfecta (OI), and 3 of whom are normal. We analyzed collagens synthesized by cultured fibroblasts from these 2 sisters and their parents and detected no major abnormalities. Results of chromosomal and metabolic evaluations including amino acid analysis of plasma, urine, and hair were unremarkable. A literature search and survey of a computerized syndrome identification database did not disclose an identical phenotype. The sisters bear superficial resemblance to several known syndromes which we excluded on clinical and/or biochemical grounds. We conclude that they represent a new autosomal recessive syndrome, distinct from type II OI and perhaps unique to the Mennonite population or to this particular family. © 1992 Wiley‐Liss, Inc.
Linkage analysis of a candidate locus (HLA) in autosomal dominant sacral defect with anterior meningocele
Authors: Chatkupt Sansnee , Speer Marcy C. , Ding Yulan , Thomas Marc , Stenroos Edward S. , Dermody James J. , Koenigsberger M. Richard , Ott Jurg , Johnson William G. 
Published: June 2005

AbstractSacral defect with anterior meningocele (SDAM) is a type of caudal dysgenesis. It is present at birth and becomes symptomatic later in life, usually because of obstructive labor in females, chronic constipation, rectal fistula and abscess, or meningitis. The inheritance is autosomal dominant. HLA has been implicated in caudal dysgenesis because of analogy with disorders of the T‐locus complex, a tail length determining gene in mice which is linked to the major histocompatibility complex, H‐2. Members of a 5‐generation family with sacral defect and anterior meningocele (SDAM) were typed with polymorphic markers (dinucleotide repeats D6S89, D6S105, D6S109, and TCTE1) linked to HLA. Two‐point and multipoint analysis exclude the HLA region as the location for the SDAM gene in this family. © 1994 Wiley‐Liss, Inc.
Apparently new syndrome of short stature, lumbar malsegmentation, and minor facial anomalies in two brothers
Authors: Leipälä Jaana A. , Kaitila Ilkka 
Published: June 2005

AbstractWe describe a previously unrecognized syndrome in two brothers with short stature, webbed neck, unusual face, moderate malsegmentation of the lumbar spine, and unilateral Legg‐Perthes‐Calvé type “disease” of the hip. Autosomal recessive inheritance is proposed, although we cannot exclude the possibility of an X‐linked recessive or an autosomal dominant condition with germinal mosaicism. © 1994 Wiley‐Liss, Inc.
Biochemical and biological properties of urinary follicle‐stimulating hormone (FSH) from the rhesus monkey (Macaca mulatta)
Authors: Matteri Robert L. , Warikoo Pradeep K. , Bavister Barry D. 
Published: June 2005

AbstractFollicle‐stimulating hormone (FSH) is routinely used for the induction of superovulation in women. Homologous gonadotropin preparations that could be used for reproductive studies in macaques would have valuable research applications. Accordingly, we set out to characterize the physical and biological characteristics of urinary FSH (UFSH) in the ovariectomized rhesus monkey. In urine from 7 monkeys, concentrations of bioactive FSH ranged from 16 to 57 μg/1, relative to cynFSH‐RPI (NIDDK). UFSH was contrasted to pituitary FSH (PFSH) by non‐reducing SDS‐polyacrylamide gel electrophoresis (PAGE), native disc PAGE, and FPLC chromatofocusing. The apparent molecular weights of UFSH and PFSH are similar (approximately 35 kD); however, UFSH is more negatively charged and demonstrates a lower overall isoelectric (pl) range than PFSH. The bioactivity of UFSH was assessed by the stimulation of aromatase activity in cultured Sertoli cells and by induction of follicular maturation in hamsters. Two fractions of pituitary FSH, which differed in isoelectric properties, were obtained by chromatofocusing. The in vivo biological activity of FSH‐A (acidic, pl 3.8–4.6) and UFSH (pl 3.5–4.5) were similar, but greater than FSH‐B (basic, pl 4.6–5.5). These results support the hypothesis that heavily sialylated, low pl FSH expresses high in vivo bioactivity. This may reflect the well‐known effect of sialic acid in prolonging the circulating half‐life of glycoproteins. Thus, the quality and quantity of FSH present in ovariectomized rhesus monkey urine indicates that this may be a useful source for the preparation of enriched hormone preparations. © 1992 Wiley‐Liss, Inc.
Rhodopsin: A Structural Primer for G‐Protein Coupled Receptors
Authors: Stenkamp Ronald E. , Teller David C. , Palczewski Krzysztof 
Published: June 2005

AbstractAn overview of the rhodopsin crystal structure provides a structural basis for understanding the structures and functions of other G‐protein coupled receptors (GPCRs). All of the structural details observed to date for rhodopsin will not necessarily carry over to other GPCRs, but major features such as the arrangement of the seven transmembrane helices, the retinal/ligand binding site, the D(E)RY and NPXXY sequence and structural motifs, and the bent helices are likely characteristics of the GPCRs most closely related to rhodopsin. A general view of these structural features is presented here.
Recent Advances in Melatonin Receptor Ligands
Authors: Zlotos Darius P. 
Published: June 2005

AbstractMelatonin is a hormone exerting its multiple actions mainly through two G‐protein‐coupled receptors MT1 and MT2. Exploring the physiological role of each of these subtypes requires subtype selective MT1 and MT2 ligands. While several MT2‐selective ligands were developed in the 1990s, no selective agonists and antagonists for the MT1 subtype were described. The present article reviews mela toninergic ligands developed in the current millennium focusing on subtype selective agents and on drug candidates. Notable compounds are the MT1‐selective agonists 35 and 134, MT1‐selective antagonists 117 and 131, MT2‐selective agonists 58, 70, 79, 97 and 125, MT2‐selective antagonists 27, 73 and 119, and the highly potent non‐selective agonist 120. The non‐selective agonists agomelatine 2, and ramelteon 87 are drug candidates as antidepressive agent and for the treatment of insomnia and circadian rhythm disfunction, respectively.
Microarray analysis of genes in fetal central nervous system after ethylnitrosourea administration
Authors: Katayama Kei‐ichi , Ueno Masaki , Yamauchi Hirofumi , Nakayama Hiroyuki , Doi Kunio 
Published: June 2005

AbstractBACKGROUND: Ethylnitrosourea (ENU), a monofunctional alkylating agent, induces apoptosis and cell cycle arrest in neuroepithelial cells, neural stem cells in the fetal central nervous system (CNS). These effects occur immediately after the administration of ENU to pregnant animals resulting in fetal brain anomalies and long‐term effects include brain tumors in the offspring. METHODS: Changes in gene expression were investigated in the fetal CNS after ENU administration to pregnant rats using microarray to identify the genes involved in the injury and recovery of the fetal CNS. RESULTS: The up‐regulation of 21 genes in injury and 15 genes in recovery phases and down‐regulation of 5 genes in injury and 3 genes in recovery phases were identified. The genes up‐regulated in the injury phase contained p53‐target genes that mediate apoptosis and cell cycle arrest, and those in the recovery phase contained cell proliferation‐promoting genes. The genes down‐regulated in the injury phase contained cholesterol biosynthesis‐related genes. In addition, there were some genes that have not been identified to be involved in the CNS injury and recovery. CONCLUSIONS: The present study will provide a better understanding of the mechanisms of development, regeneration and carcinogenesis of the CNS as well as the mechanisms of ENU‐induced fetal CNS injury and recovery. Birth Defects Res B 74:255–260, 2005. © 2005 Wiley‐Liss, Inc.
Critical window of male reproductive tract development in rats following gestational exposure to di‐n‐butyl phthalate
Authors: Carruthers Christina M. , Foster Paul M.D. 
Published: June 2005

AbstractBACKGROUND: Gestational exposure to di‐n‐butyl phthalate (DBP), a ubiquitous environmental contaminant, has been shown to interfere with the development of the male reproductive tract by acting as an antiandrogen. This study was conducted to identify the critical days for the abnormal development of the male reproductive tract, specifically the testis and epididymis. METHODS: Timed‐pregnant Sprague‐Dawley rats were dosed with DBP at 500 mg/kg/day on gestation day (GD) 14 and 15, 15 and 16, 16 and 17, 17 and 18, 18 and 19, or 19 and 20 (GD 0=plug day). Anogenital distance (AGD) was measured on postnatal day (PND) 1 and 13, while areloa number was recorded on PND 13 only. After weaning, males were allowed to mature to PND 90 at which time they were necropsied. Areloa number and AGD were recorded and testes, epididymides, seminal vesicles, prostate gland, kidneys, and liver weighed. Blood serum was collected and assayed for total testosterone concentration. RESULTS: There were no observable effects on litter size, sex ratio, serum testosterone concentration, or mortality of pups. Statistically significant permanent reductions in AGD were seen in males exposed prenatally to DBP on GD 15 and 16 or GD 18 and 19. On PND 13, areola were present in males exposed to DBP on GD 15 and 16, 16 and 17, 17 and 18, and 19 and 20. However, permanent retention occurred only in males after DBP exposure on GD 16 and 17. Exposure to DBP on only GD 17 and 18 elicited a reduction in epididymal weights; while exposure on only GD 16 and 17 caused a significant increase in the weights of the testes due to edema. In this study, epididymal and testicular malformations were most prevalent after exposure to DBP on any gestational day. Epididymal malformations, characterized by agenesis of various regions and small or flaccid testes were significantly increased in DBP‐exposed males only on GD 16 and 17. CONCLUSIONS: These findings suggest that 2‐day DBP exposure is highly detrimental to the developing reproductive tract of the male fetus and the critical window for abnormal development is GD 16–18. Birth Defects Res B 74:277–285, 2005. Published 2005 Wiley‐Liss, Inc.
Proliferation of dinoflagellates: blooming or bleaching
Authors: Wong Joseph T.Y. , Kwok Alvin C.M. 
Published: June 2005

AbstractThe dinoflagellates, a diverse sister group of the malaria parasites, are the major agents causing harmful algal blooms and are also the symbiotic algae of corals. Dinoflagellate nuclei differ significantly from other eukaryotic nuclei by having extranuclear spindles, no nucleosomes and enormous genomes in liquid crystal states. These cytological characteristics were related to the acquisition of prokaryotic genes during evolution (hence Mesokaryotes), which may also account for the biochemical diversity and the relatively slow growth rates of dinoflagellates. The fact that the proliferation of many dinoflagellates is sensitive to turbulence may be due to the physiological requirements of the genome's liquid crystal states. Mechanical stress and anti‐microtubule drugs induce cell cycle arrest mainly in G1, implicating a role for the permanent cortical microtubular cytoskeleton in mechanotransduction. The cell cycles of photosynthetic dinoflagellates are also gated by the circadian rhythm, with cell division occurring mainly at the end of the dark phase. Cell growth and the biosynthesis of many toxins occur during the light phase, corresponding to G1 in the cell cycle. The dinoflagellates also embody several options for coupling cell cycle progression to cell growth, enabling them to make the best use of available resources and possibly preparing them for a symbiotic existence. BioEssays 27:730–740, 2005. © 2005 Wiley Periodicals, Inc.
Multiple but dissectible functions of FEN‐1 nucleases in nucleic acid processing, genome stability and diseases
Authors: Shen Binghui , Singh Purnima , Liu Ren , Qiu Junzhuan , Zheng Li , Finger L. David , Alas Steve 
Published: June 2005

AbstractFlap EndoNuclease‐1 (FEN‐1) is a multifunctional and structure‐specific nuclease involved in nucleic acid processing pathways. It plays a critical role in maintaining human genome stability through RNA primer removal, long‐patch base excision repair and resolution of dinucleotide and trinucleotide repeat secondary structures. In addition to its flap endonuclease (FEN) and nick exonuclease (EXO) activities, a new gap endonuclease (GEN) activity has been characterized. This activity may be important in apoptotic DNA fragmentation and in resolving stalled DNA replication forks. The multiple functions of FEN‐1 are regulated via several means, including formation of complexes with different protein partners, nuclear localization in response to cell cycle or DNA damage and post‐translational modifications. Its functional deficiency is predicted to cause genetic diseases, including Huntington's disease, myotonic dystrophy and cancers. This review summarizes the knowledge gained through efforts in the past decade to define its structural elements for specific activities and possible pathological consequences of altered functions of this multirole player. BioEssays 27:717–729, 2005. © 2005 Wiley Periodicals, Inc.
β1 integrins and neural stem cells: making sense of the extracellular environment
Authors: Campos Lia Scotti 
Published: June 2005

AbstractNeural Stem Cells (NSC) are present in the developing and adult CNS. In both the embryonic and adult neurogenic regions, β1 integrins may act as sensors for the changing extracellular matrix. Here we highlight the integrative functions that β1 integrins may play in the “niche” by regulating NSC growth factor responsiveness in a timely and spatially controlled manner. β1 integrins may provide NSC with the capacity to react to a dynamic “niche”, and to respond adequately by either remaining as stem cells or by differentiating and migrating away to shape the developing cortex. © 2005 Wiley Periodicals, Inc. BioEssays 27:698–707, 2005. © 2005 Wiley Periodicals, Inc.
Chromosome ends: different sequences may provide conserved functions
Authors: Louis Edward J. , Vershinin Alexander V. 
Published: June 2005

AbstractThe structures of specific chromosome regions, centromeres and telomeres, present a number of puzzles. As functions performed by these regions are ubiquitous and essential, their DNA, proteins and chromatin structure are expected to be conserved. Recent studies of centromeric DNA from human, Drosophila and plant species have demonstrated that a hidden universal centromere‐specific sequence is highly unlikely. The DNA of telomeres is more conserved consisting of a tandemly repeated 6–8 bp Arabidopsis‐like sequence in a majority of organisms as diverse as protozoan, fungi, mammals and plants. However, there are alternatives to short DNA repeats at the ends of chromosomes and for telomere elongation by telomerase. Here we focus on the similarities and diversity that exist among the structural elements, DNA sequences and proteins, that make up terminal domains (telomeres and subtelomeres), and how organisms use these in different ways to fulfil the functions of end‐replication and end‐protection. BioEssays 27:685–697, 2005. © 2005 Wiley Periodicals, Inc.
Hox and wings
Authors: Deutsch Jean 
Published: June 2005

AbstractIn many bilaterian phyla, appendages are morphological traits that characterise the identity of the various body parts. In pterygote insects, wings are dorsal appendages on the thorax. The famous “bithorax” fly created by Ed Lewis is the emblematic example of the role of Hox genes.1 Now, Tomoyasu et al.,2 using classical genetics, transgenesis and RNAi, have examined the function of thoracic Hox genes in the beetle Tribolium castaneum. Beetles have rigid elytra in place of the first pair of wings. Instead of the expected transformation of the elytron into a wing, loss of Hox genes' function leads to the homeotic transformation of the second pair of dorsal appendages, the wings, into elytra. This has important consequences for the way that we see the role of Hox genes in development and evolution. BioEssays 27:673–675, 2005. © 2005 Wiley Periodicals, Inc.
Association by guilt: identification of DLX5 as a target for MeCP2 provides a molecular link between genomic imprinting and Rett syndrome
Authors: Bapat Sharmila , Galande Sanjeev 
Published: June 2005

AbstractRett syndrome (RTT) is an X‐linked dominant neurodevelopmental disorder affecting almost exclusively girls. Although mutations in methyl‐CpG‐binding protein (MeCP2) are known to be associated with RTT, gene expression patterns are not significantly altered in MeCP2‐deficient cells. A recent study1 identified MeCP2‐mediated histone modification and formation of a higher‐order chromatin loop structure specifically associated with silent chromatin at the Dlx5–Dlx6 locus in normal cells, and its absence thereof in RTT patients. This altered expression of Dlx5 through loss of silent chromatin loop formation provides a molecular mechanism underlying RTT and proposes a novel role for MeCP2 in chromatin organization and imprinting. © 2005 Wiley Periodicals, Inc. BioEssays 27:676–680, 2005. © 2005 Wiley Periodicals, Inc.