Extreme phenotypes
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Collagen type VI-related disorders consist of Ullrich congenital muscular dystrophies (UCMD) and Bethlem myopathy, in which these entities are at two opposite extremes of the phenotype continuum. Clinical characteristics include proximal joint contracture, distal joint hyperlaxity, generalized muscle weakness, normal cognitive function, and pulmonary insufficiency.
9p vimulcahy 18-09-2023 3 3 Download
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Despite extensive research the genetic component of extremely low birth weight (ELBW) in newborns has remained obscure. A family of four was studied: mother, father and two ELBW-phenotype children. Studies were made of the medical conditions of the second child at birth and post-partum - peculiar phenotype, micro-anomalies, recurrent infections, suspicion of autoimmune hepatitis, multifactorial encephalopathy and suspected metabolic and chromosomal abnormalities.
5p vinarcissa 21-03-2023 6 1 Download
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The ability of maize populations/landraces to tolerate drastically extreme environments over the past four centuries in Algeria leads to characterize these genetic resources for germplasm management as well as the identification of the best landraces useful for genetic improvement.
10p vihagrid 30-01-2023 11 3 Download
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Association studies in recently admixed populations are extremely useful to identify the genetic architecture of pigmentation, due to their high genotypic and phenotypic variation. However, to date only four Genome-Wide Association Studies (GWAS) have been carried out in these populations.
16p vihagrid 30-01-2023 7 3 Download
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The rapid development of sequencing technology and simultaneously the availability of large quantities of sequence data has facilitated the identification of rare variant associated with quantitative traits. However, existing statistical methods depend on certain assumptions and thus lacking uniform power.
9p vihagrid 30-01-2023 10 3 Download
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Horizontal pleiotropy, where one variant has independent effects on multiple traits, is important for our understanding of the genetic architecture of human phenotypes. We develop a method to quantify horizontal pleiotropy using genome-wide association summary statistics and apply it to 372 heritable phenotypes measured in 361,194 UK Biobank individuals. Horizontal pleiotropy is pervasive throughout the human genome, prominent among highly polygenic phenotypes, and enriched in active regulatory regions.
18p vielonmusk 30-01-2022 8 0 Download
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Yaks that inhabit the Tibetan Plateau exhibit striking phenotypic and physiological differences from cattle and have adapted well to the extreme conditions on the plateau. However, the mechanisms used by these animals for the regulation of gene expression at high altitude are not fully understood.
13p vilarryellison 29-10-2021 6 1 Download
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The haplotype phasing problem tries to screen for phenotype associated genomic variations from millions of candidate data. Most of the current computer programs handle this problem with high requirements of computing power and memory.
9p vikentucky2711 26-11-2020 9 1 Download
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Melnick-Needles syndrome (MNS) is an extremely rare osteochondrodysplasia caused by a mutation of FLNA, the gene encoding filamin A. MNS is inherited in an X-linked dominant manner. In this study, we describe three members of the same family with MNS, who exhibited different phenotypic severity despite having an identical FLNA gene mutation.
6p vimoscow2711 28-08-2020 11 2 Download
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While cure rates for childhood acute lymphoblastic leukemia (cALL) now exceed 80%, over 60% of survivors will face treatment-related long-term sequelae, including cardiometabolic complications such as obesity, insulin resistance, dyslipidemia and hypertension.
14p vimanama2711 30-07-2020 14 1 Download
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Biological control is known to be effective eco-friendly method for the management of crop diseases (Cook and Baker, 1983). Rhizosphere antagonists were isolated from healthy rhizosphere soil samples of chilli collected from major chilli growing areas of Andhra Pradesh. A total of 20 rhizosphere microbes were isolated. Out of which (eight fungal antagonists, ten bacterial antagonists and two fluorescent Pseudomonads) were found to exhibit antagonism against chilli wilt pathogen. On further in vitro evaluation, nine isolates including four fungi, four bacteria and one pseudomonas sp.
6p quenchua6 15-06-2020 9 2 Download
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Inherited pathogenic variants in BRCA1 and BRCA2 are the most common causes of hereditary breast and ovarian cancer (HBOC). The risk of developing breast cancer by age 80 in women carrying a BRCA1 pathogenic variant is 72%.
12p vikuala271 13-06-2020 7 0 Download
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Homologous transformation sterility-1 (HTS-1) is a novel wheat mutant that exhibits pistillody, the transformation of stamens into pistils or pistil-like structures. More extreme phenotypes of this mutation can have six pistils or pistil-like structures without any stamens in a floret.
9p vishikamaru2711 29-04-2020 20 1 Download
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Double aneuploidies - especially in combination with structural aberrations - are extremely rare among liveborns. The most frequent association is that of Down (DS) and Klinefelter syndromes (KS). We present the case of a male newborn with a unique 47,XY,+ 21[80%]/48,XY,+i(X)(q10),+ 21[20%] karyotype, hypothesize about his future phenotype, discuss the aspects of management and review the literature.
8p vivalanbo2711 19-03-2020 8 2 Download
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Transgressive segregation produces hybrid progeny phenotypes that exceed the parental phenotypes. Unlike heterosis, extreme phenotypes caused by transgressive segregation are heritably stable. Maximum genetic variation in F2 generation provides the first opportunity for selection of individual plants, any one of which may end up into a new cultivar. F2 plants that surpassed the parental limits were observed in both the crosses for all the traits viz.
6p chauchaungayxua3 07-02-2020 9 0 Download
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Phenotypic difference is general in Mendelian disease. Due to the extremely low incidence for a single disease, phenotype spectrum needs to be expanded. Meanwhile, earlier knowledge says patients who suffered from two kinds of different Mendelian disease are very rare.
5p virome2711 13-01-2020 16 0 Download
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Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: Transcriptional control of anthocyanin biosynthetic genes in extreme phenotypes for berry pigmentation of naturally occurring grapevines
10p panasonic06 26-12-2011 83 7 Download
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Hemoglobin E HbE (i.e., α2β226Glu - Lys) is extremely common in Cambodia, Thailand, and Vietnam. The gene has become far more prevalent in the United States as a result of immigration of Asian persons, especially in California, where HbE is the most common variant detected. HbE is mildly unstable but not enough to affect RBC life span significantly. The high frequency of the HbE gene may be a result of the thalassemia phenotype associated with its inheritance. Heterozygotes resemble individuals with mild β-thalassemia trait.
5p thanhongan 07-12-2010 89 3 Download