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Gertz E Michael - - 2013
We report on the analyses of genes encoding immunoglobulin heavy and light chains in the rabbit 6.51× whole genome assembly. This OryCun2.0 assembly confirms previous mapping of the duplicated IGK1 and IGK2 loci to chromosome 2 and the IGL lambda light chain locus to chromosome 21. The most frequently rearranged ...
Carneiro Miguel M CIBIO, Centro de Investigação em Biodiversidade e Recursos Genéticos, Campus Agrário de Vairão, Universidade do Porto, Vairão, Portugal. - - 2013
Maintenance of genetic distinction in the face of gene flow is an important aspect of the speciation process. Here, we provide a detailed spatial and genetic characterization of a hybrid zone between two subspecies of the European rabbit. We examined patterns of allele frequency change for 22 markers located on ...
Wang Zhiquan - - 2012
Exploitation of heterosis has brought significant advance in plant breeding and agricultural production, although its genetic basis is still poorly understood. In this study, a total of 66 chromosome segment substitution (CSS) lines, derived from a cross between japonica rice inbred line Asominori (as the recurrent parent) and indica rice ...
Faherty Christina S - - 2012
Shigella flexneri is a Gram-negative, facultative intracellular pathogen that causes millions of cases of watery or bloody diarrhea annually, resulting in significant global mortality. Watery diarrhea is thought to arise in the jejunum, and subsequent bloody diarrhea occurs as a result of invasion of the colonic epithelium. Previous literature has ...
Arslan Mutluay - - 2011
Ring chromosome 21 syndrome is a rare clinical condition. Most of the patients have a recognizable phenotype and multisystem involvement is described. Structural neurologic anomalies have also been described, but waddling gait due to lower motor neuron involvement has not been previously reported in association with ring 21.
Shirasawa S - - 2011
Low temperature at the booting stage of rice causes male sterility resulting in severe yield loss. Cold tolerance has long been an important objective in rice breeding. We identified a quantitative trait locus (QTL) for cold tolerance on the long arm of chromosome 3 from the cold-tolerant breeding line 'Ukei ...
Harada Sohei - - 2012
Analysis of five CTX-M-2-producing Proteus mirabilis isolates in Japan demonstrated that bla(CTX-M-2) was located on the chromosome in four isolates and on IncT plasmids in three isolates, including two isolates that also carried the gene on the chromosome. In all four isolates with chromosomal bla(CTX-M-2), ISEcp1 was responsible for the ...
Jiang Wenzhu W College of Plant Science, Jilin University, Changchun 130062, - - 2011
Low temperature is one of the major environmental stresses in rice cultivation in high-altitude and high-latitude regions. In this study, we cultivated a set of recombinant inbred lines (RIL) derived from Dasanbyeo (indica) / TR22183 (japonica) crosses in Yanji (high-latitude area), Kunming (high-altitude area), Chuncheon (cold water irrigation) and Suwon ...
Vítámvás Pavel - - 2011
Dynamics of cold tolerance and crown proteome composition has been analysed in a set of two winter wheat cultivars Mironovskaya 808 and Bezostaya 1 and four reciprocal substitution lines with interchanged chromosomes 5A and 5B during a long-term cold-acclimation (CA) treatment. Proteome analysis has revealed 298 differently abundant spots during ...
Jeyaprakash A Arockia - - 2011
Localization of the chromosomal passenger complex (CPC) at centromeres during early mitosis is essential for accurate chromosome segregation and is dependent on the phosphorylation of histone H3. We report the 2.7 Å resolution structure of the CPC subunit Survivin bound to the N-terminal tail of histone H3 carrying the Thr3 phosphorylation ...
Catalán Julia - - 2011
Abstract We examined if three commercially available nanomaterials - short singlewall carbon nanotubes (SWCNTs), short multiwall carbon nanotubes (MWCNTs) and nanosized titanium dioxide anatase (TiO(2); primary particle size <25 nm) - can induce structural chromosomal aberrations (CAs) in cultures of isolated human lymphocytes. To find a suitable sampling time, the ...
Myśków Beata - - 2012
The objectives of the research were to determine the position of quantitative trait loci (QTL) for α-amylase activity on the genetic map of a rye recombinant inbred line population-S120 × S76-and to compare them to known QTL for preharvest sprouting and heading earliness. Fourteen QTL for α-amylase activity on all seven chromosomes ...
Garcia Costas Amaya M - - 2011
Candidatus Chloracidobacterium thermophilum, which naturally inhabits microbial mats of alkaline siliceous hot springs in Yellowstone National Park, is the only known chlorophototroph in the phylum Acidobacteria. The Ca. C. thermophilum genome was composed of two chromosomes (2 683 362 bp and 1 012 010 bp), and both encoded essential genes. The genome included genes to produce chlorosomes, ...
Tang Jianwei - - 2011
Barley (Hordeum vulgare) has a much higher content of bioactive substances than wheat (Triticum aestivum). In order to investigate additive and/or synergistic effect(s) on the phytosterol content of barley chromosomes, we used a series of barley chromosome addition lines of common wheat that were produced by normal crossing. In determining ...
Duszczyk Malgorzata M - - 2011
Initiation of X-chromosome inactivation in female mammals depends on the non-coding RNA Xist. We have solved the NMR structure of a 14-nucleotide hairpin with a novel AUCG tetraloop fold from a Xist A-repeat that is essential for silencing. The (1)H, (13)C, (15)N and (31)P chemical shift assignments are reported.
Cordoba Iris - - 2011
BACKGROUND: Abnormalities involving chromosome 7 are frequent in myelodysplastic syndrome (MDS) and suggest a poor prognosis. METHODS: The authors examined the hypothesis that the clinical features and survival associated with isolated deletion (del) of part of the long arm of chromosome 7 (7q) in MDS are different from those associated ...
Ding Xipeng - - 2011
Drought stress is a major limiting factor for crop production and breeding for drought resistance is very challenging due to the complex nature of this trait. Previous studies in rice suggest that the upland japonica variety IRAT109 shows better drought resistance than the lowland indica variety Zhenshan 97. Numerous quantitative ...
Liu Handeng - - 2011
The spore morphology, chromosomal karyotype, and molecular systematic of a new microsporidian which was isolated from the domesticated silkworm Bombyx mori (Lepidoptera: Bombycidae) in Shandong, China have been studied. The spores were long oval and measured 3.4 × 1.6 μm on fresh smears. Ultrastructure of the spores was characteristic for the genus Vairimorpha: ...
Basit S - - 2011
Basit S, Wali A, Aziz A, Muhammad N, Jelani M, Ahmad W. Digenic inheritance of an autosomal recessive hypotrichosis in two consanguineous pedigrees. Hypotrichosis is a human hereditary hair loss disorder in which affected individuals show sparse to complete absence of hair on scalp and/or on different body parts. To ...
Xiao Guanghua - - 2011
Recent genomic studies have shown that significant chromosomal spatial correlation exists in gene expression of many organisms. Interestingly, coexpression has been observed among genes separated by a fixed interval in specific regions of a chromosome chain, which is likely caused by three-dimensional (3D) chromosome folding structures. Modeling such spatial correlation ...
Golczyk H - - 2011
Fluorescent in situ hybridization, C-banding/DAPI, and CMA(3)-fluorescence were performed to reveal the cytomolecular constitution of the standard (A) and supernumerary (B) chromosomes of an autotetraploid Tradescantia virginiana L. The analyses show that translocations and/or inversions have occurred during the evolution of the T. virginiana karyotype, generating a significant level of ...
Joshi Giri Prasad - - 2011
We used gametocidal (Gc) chromosomes 2C and 3C(SAT) to dissect barley 2H added to common wheat. The Gc chromosome induces chromosomal breakage resulting in chromosomal aberrations in the progeny of the 2H addition line of common wheat carrying the monosomic Gc chromosome. We conducted in situ hybridization to select plants ...
Endelman Jeffrey B - - 2011
The need to integrate information from multiple linkage maps is a long-standing problem in genetics. One way to visualize the complex ordinal relationships is with a directed graph, where each vertex in the graph is a bin of markers. When there are no ordering conflicts between the linkage maps, the ...
Wang G J - - 2010
The objective was to determine whether enucleated oocytes injected with frozen porcine first polar bodies (pPB1s) could be fertilized and developed into viable embryos in vitro. Metaphase II (MII) oocytes with pPB1s were frozen (vitrified) and stored for 2 mo. The pPB1s were isolated from thawed MII oocytes and injected ...
Mukkamala Krishna - - 2010
Choroideremia is an X-linked recessive disorder characterized by vision loss with progressive atrophy of the retinal photoreceptors, retinal pigment epithelium (RPE), and choriocapillaris. Ectodermal dysplasia is a heterogeneous group of disorders characterized by a deficiency of two or more ectodermal derivatives. We report on the phenotypic and genetic characteristics of ...
Reese James J - - 2010
Hereditary hemihypotrophy hemiparesis hemiathetosis syndrome (HHHH; OMIM 306960) was first reported in a family with congenital left hemiplegia in two males and moderately affected females. We describe a family with three males demonstrating congenital right hemiplegia with porencephalic lesions of the left internal capsule and putamen, or the periventricular white ...
Carss K J - - 2011
Familial hyperaldosteronism type II (FH-II) is an inherited form of hyperaldosteronism associated with hypertension in most patients. The mutations that cause FH-II are unknown, but linkage analysis has mapped them to chromosome 7p22. As FH-II is clinically indistinguishable from sporadic primary aldosteronism, a common and treatable condition, unravelling the cause ...
Al-Ali Faiza Mohamed Saleh - - 2010
Hidradenitis suppurativa (HS) is a chronic inflammatory skin condition characterized by swollen, painful, inflamed lesions in the axillae, groin, armpits and other parts of the body that contain apocrine glands. The aetiology of HS is unknown, and earlier reports indicate genetic locus responsible for this phenotype on chromosome 1p21.1-1q25.3, but ...
Weissbach Anne - - 2010
Autosomal dominant spinocerebellar ataxias (SCAs) are a clinically and genetically heterogeneous group of neurodegenerative disorders. We investigated an SCA family from Serbia of Roma ethnic origin; four affected and nine unaffected family members underwent a detailed neurological examination. The presenting symptom in all patients was gait unsteadiness in early adulthood. ...
Sandell Satu - - 2010
Two families with autosomal dominant limb girdle muscular dystrophy (LGMD) have previously been linked to a locus on chromosome 7q36 10 years ago. The locus has been termed both LGMD1D and 1E, but because of lack of additional families to narrow down the linked region of interest, this disease has ...
Temwichitr Jedee - - 2010
OBJECTIVE: To study radiographic and genetic aspects of hereditary radial head subluxation in Bouviers des Flandres. ANIMALS: 26 related Bouviers des Flandres affected with bilateral subluxation of the radial head, 10 unaffected related dogs, and 29 unrelated Bouviers des Flandres with diagnoses of nonskeletal diseases. PROCEDURES: All dogs were radiographically ...
Ishikawa Kinya - - 2010
The chromosome 16q22.1-linked autosomal-dominant cerebellar ataxia (16q-ADCA) is a form of spinocerebellar ataxia (SCA) common in Japan. It is clinically characterized by late-onset purely cerebellar ataxia. The neuropathologic hallmark of 16q-ADCA is degeneration of Purkinje cells accompanied by an eosinophilic structure which we named "halo-like amorphous materials". By immunohistochemistry and ...
Khan S - - 2010
Palmoplantar keratodermas (PPKs) are a group of highly heterogeneous diseases causing hyperkeratosis of the palms and soles. They can be inherited in an autosomal recessive, dominant, mitochondrial or possibly X-linked recessive fashion. The present study describes clinical and molecular genetic analysis of a consanguineous Pakistani family showing a severe form ...
Bernard Geneviève - - 2010
Leukodystrophies are a heterogeneous group of disorders associated with abnormal central nervous system white matter. The clinical features invariably include upper motor neuron signs and developmental regression with or without other neurological manifestations. The objective of this study was to characterize clinically and genetically a new form of childhood-onset leukodystrophy ...
Alvarado David M - - 2010
Clubfoot is a common musculoskeletal birth defect for which few causative genes have been identified. To identify the genes responsible for isolated clubfoot, we screened for genomic copy-number variants with the Affymetrix Genome-wide Human SNP Array 6.0. A recurrent chromosome 17q23.1q23.2 microduplication was identified in 3 of 66 probands with ...
Cho Tae-Joon - - 2010
A three-generation family with four patients affected by a novel mesomelic dysplasia was investigated for genome-wide DNA copy number variation profiles. This revealed a microduplication of a 1.0-Mb chromosomal segment at 2q31.1 spanning nine Homeo box D (HOXD) genes that co-segregated with the phenotype. Quantitative PCR analysis of a gene ...
Backx Liesbeth - - 2010
Intellectual disability (ID) comprises a vast collection of clinically diverse and genetically heterogeneous disorders characterized primarily by central nervous system defects of varying severity with or without additional dysmorphic, metabolic, neuromuscular or psychiatric features. Much progress has been made to elucidate the genetic causes for ID, especially on the X-chromosome. ...
Hoogeveen-Westerveld Marianne - - 2010
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterised by the development of hamartomas in a variety of organs and tissues. The disease is caused by mutations in either the TSC1 gene on chromosome 9q34, or the TSC2 gene on chromosome 16p13.3. The TSC1 and TSC2 gene products, TSC1 ...
Basit Sulman - - 2010
Hereditary hypotrichosis is a heterogeneous group of inherited hair loss disorders characterized by diffused or localized thinning or absence of hair affecting scalp, eyebrows and eyelashes, and other body parts. Over the past few years, at least four autosomal dominant and six autosomal recessive forms of hypotrichosis have been described. ...
Rasool Mahmood - - 2010
Hair-nail ectodermal dysplasia (HNED; OMIM 602032) constitutes a rare subgroup of ectodermal dysplasias characterised by onychodystrophy, hypotrichosis and brittle hair. We identified a large consanguineous Pakistani family with four siblings affected by a congenital autosomal recessive form of the disease. Based on previous genetic findings in HNED we performed linkage ...
Naz Gul - - 2010
Autosomal recessive hypotrichosis is a rare form of human genetic disorder characterized by sparse to absent hair on scalp and rest of the body of affected individuals. Over the past few years at least five autosomal recessive forms of hypotrichosis loci have been mapped on different human chromosomes. In the ...
Naz Shagufta - - 2010
To identify a disease locus for autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family. Prospective linkage study. Blood samples were collected and genomic DNA was extracted. A genome-wide scan was performed using 382 polymorphic microsatellite markers on genomic DNA from 4 affected and 5 unaffected family members, and logarithm ...
Pinto Nádia - - 2011
The standard practice of forensic kinship evaluation uses unlinked autosomal markers. However, X-chromosome markers have recently gained recognition as a powerful tool to complement the information provided by autosomes, particularly in complex cases. In this paper, the X-chromosome mode of transmission is addressed in the theoretical identity-by-descent framework. Formulas for ...
Genzer-Nir Mira - - 2010
Mammary-digital-nail syndrome is a novel phenotypic association consisting of anonychia onychodystrophy with hypoplasia or absence of distal phalanges in males and females, accompanied by juvenile hypertrophy of the breast in affected females. This newly described genetic trait presents an autosomal dominant inheritance pattern, with either reduced penetrance or germ-line mosaicism. ...
Wu W M - - 2010
BACKGROUND: The condition of multiple syringomas is a common skin problem that begins in early adulthood and is characterized by the appearance of skin-coloured papules around the eyes. Previous reports have demonstrated that some cases of multiple syringomas are inherited in an autosomal dominant manner. OBJECTIVE: To identify the genetic ...
Del Vecchio Carmen - - 2010
We adopt the second Liapunov method to derive stability property of the equilibrium point in a non linear, discrete time, positive system, modeling the inheritance pattern of X-chromosome linked recessive diseases in the human population. By constructing a Liapunov function we derive globally asymptotically stable properties of the non trivial ...
Khan Shahid Yar - - 2010
Genetic analysis of an inbred Pakistani family PKDF280, segregating prelingual severe to profound sensorineural hearing loss, provided evidence for a DFNB locus on human chromosome 9q34.3. Co-segregation of the deafness trait with marker D9SH159 was determined by a two-point linkage analysis (LOD score 9.43 at theta=0). Two additional large families, ...
Kaul Haiba - - 2010
PURPOSE: To identify the disease locus for autosomal recessive congenital cataract in a consanguineous Pakistani family. METHODS: All affected individuals underwent detailed ophthalmologic and medical examination. Blood samples were collected and DNA was extracted. A genome-wide scan was performed with polymorphic microsatellite markers on genomic DNA from affected and unaffected ...
Meilleur K G - - 2010
We identified a family in Mali with two sisters affected by spastic paraplegia. In addition to spasticity and weakness of the lower limbs, the patients had marked atrophy of the distal upper extremities. Homozygosity mapping using single nucleotide polymorphism arrays showed that the sisters shared a region of extended homozygosity ...
Everett Kate V - - 2009
Infantile hypertrophic pyloric stenosis (IHPS) is the most common inherited form of gastrointestinal obstruction in infancy with a striking male preponderance. Infants present with vomiting due to gastric outlet obstruction caused by hypertrophy of the smooth muscle of the pylorus. Two loci specific to extended pedigrees displaying autosomal dominant inheritance ...
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