Results 51 to 60 of about 395,077 (304)

NRASQ61R Expression in Lymphatic Endothelial Cells Causes Enlarged Vessels, Hemorrhagic Chylous Effusions, and High Mortality in a Mouse Model of Kaposiform Lymphangiomatosis

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Kaposiform lymphangiomatosis (KLA) is an aggressive complex lymphatic anomaly. Patients exhibit malformed lymphatic vessels and often develop hemorrhagic effusions and elevated angiopoietin‐2 (Ang‐2) levels. A somatic NRAS p.Q61R (NRASQ61R) mutation has been associated with KLA.
C. Griffin McDaniel, Patricia Pastura, Joshua P. Scallan, Timothy D. Le Cras   +3 more
wiley   +1 more source

Identification of a pathogenic TUBB1 variant in a Chinese family with congenital macrothrombocytopenia through whole genome sequencing

Platelets, 2021
Congenital macrothrombocytopenia is a genetically heterogeneous group of rare disorders. We herein report a large Chinese family presented with phenotypic variability involving thrombocytopenia and/or giant platelets. Whole genome sequencing (WGS) of the
Yu Hou, Linlin Shao, Hai Zhou, Yanfeng Liu, Dianna G. Fisk, Elizabeth Spiteri, James L. Zehnder, Jun Peng, Bing M. Zhang, Ming Hou   +9 more
doaj   +1 more source

A microscopic model of evolution of recombination [PDF]

, 2004
We study the evolution of recombination using a microscopic model developed within the frame of the theory of quantitative traits. Two components of fitness are considered: a static one that describes adaptation to environmental factors not related to ...
Barton, Barton, Bell, Bell, Burt, Butlin, Cavalier-Smith, Cavalier-Smith, Cavalier-Smith, Cavalier-Smith, Cavalier-Smith, Cavalier-Smith, Cavalier-Smith, Charlesworth, Charlesworth, Crow, Falconer, Fisher, Kimura, Kondrashov, Manning, Maynard Smith, Michod, Muller, Otto, Peck, Redfield, Rice, Welch   +28 more
core   +2 more sources

Inputs drive cell phenotype variability [PDF]

Genome Research, 2014
What is the significance of the extensive variability observed in individual members of a single-cell phenotype? This question is particularly relevant to the highly differentiated organization of the brain. In this study, for the first time, we analyze the in vivo variability within a neuronal phenotype in terms of input type.
Park, James, Brureau, Anthony, Kernan, Kate, Starks, Alexandria, Gulati, Sonali, Ogunnaike, Babatunde, Schwaber, James S, Vadigepalli, Rajanikanth   +7 more
openaire   +3 more sources

Pulmonary Dysfunction Is Associated With Sleep Study Abnormalities in Children With Sickle Cell Disease: A Multicenter Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Introduction Pulmonary dysfunction and sleep abnormalities are common in children with sickle cell disease (SCD) and are associated with worse clinical outcomes. Whether spirometry abnormalities are associated with polysomnography (PSG) findings remains unclear.
Ammar Saadoon Alishlash, Anis Rabbani Nourani, A. K. M. Fazlur Rahman, Dima Ezmigna, Tarig Ali‐Dinar   +4 more
wiley   +1 more source

HBB mutations and HbA2 level: Escaping the carrier screening programs

Clinical Case Reports, 2021
HbA2 level alone for beta thalassemia trait may not be accurate and reliable even without iron deficiency so molecular genetic testing is important and should be considered for some individuals.
Ameneh Sharifi, Nejat Mahdieh
doaj   +1 more source

Analysis of Phenotypic Variability and Correlation on Sugar Content Contributing Phenotypes of Salak (Salacca sumatrana Reinw var.Sidempuan. ) under Various Altitudes [PDF]

, 2018
Salak (Salacca edulis), commonly known as snake fruit, is one of Indonesia's local fruit preference with a promising commercial prospect for the development of horticultural product.
Gustian, G. (Gustian), Ritonga, E. N. (Eka), Satria, B. (Benni)   +2 more
core  

Natural selection. II. Developmental variability and evolutionary rate

, 2011
In classical evolutionary theory, genetic variation provides the source of heritable phenotypic variation on which natural selection acts. Against this classical view, several theories have emphasized that developmental variability and learning enhance ...
Altschuler, Ancel, Anderson, Aubret, Avery, Baldwin, Bell, Booth, Chevin, Chevin, Coyne, Crispo, De Jong, Frank, Frank, Frank, Gavrilets, Gavrilets, Gavrilets, Geyer, Haldane, Hall, Hinton, Holland, Kaneko, Kirkpatrick, Kirschner, Lande, Lande, Loh, Mayley, Maynard Smith, Mayr, Mills, Murphy, Niepel, Pigliucci, Pigliucci, Pigliucci, Price, Rainey, Rajon, Rice, Rubin, Schlichting, Spencer, Sumner, Suzuki, Turney, Turney, Waddington, Waddington, Wagner, West-Eberhard, Whitlock, Woods, Wright, Yomo   +57 more
core   +2 more sources

Germline TP53 Mutations Causing Diamond–Blackfan Anemia: A French Report

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Diamond–Blackfan anemia is a rare congenital erythroblastopenia typically caused by mutations in ribosomal protein genes. Recently, gain‐of‐function mutations in TP53 have been identified as a novel cause of Diamond–Blackfan anemia. We report two French patients who both harbored a heterozygous TP53 deletion (NM_000546.5: c.1077delA; p ...
Rafael Moisan, Lydie Da Costa, Ludivine David Nguyen, Heloise Chosseler, Audrey Riquet, Benedicte Bruno, Melissa Barbati   +6 more
wiley   +1 more source

Phenotypic analysis of Coffea arabica accessions from Ethiopia: Contribution to the undestanding of Coffea arabica diversity [PDF]

, 2008
As a consequence of Coffea arabica domestication process, the genetic diversity of cultivated genotypes of this species is extremely restricted. According to this observation, FAO organized, in 1964-1965, surveys of spontaneous and subspontaneous ...
Del Grossi, Leandro, Lannes, Sérgio Dias, Perreira, Luiz Filipe Protasio, Pot, David, Scholz, Maria Brigida dos Santos, Tumoru, Sera, Vieira, Luiz Gonzaga Esteves   +6 more
core