Results 71 to 80 of about 2,064,271 (324)

Cellular deconvolution of GTEx tissues powers discovery of disease and cell-type associated regulatory variants. [PDF]

, 2020
The Genotype-Tissue Expression (GTEx) resource has provided insights into the regulatory impact of genetic variation on gene expression across human tissues; however, thus far has not considered how variation acts at the resolution of the different cell ...
D'Antonio, Matteo, D'Antonio-Chronowska, Agnieszka, Donovan, Margaret KR, Frazer, Kelly A   +3 more
core  

Predicting Chronicity in Children and Adolescents With Newly Diagnosed Immune Thrombocytopenia at the Timepoint of Diagnosis Using Machine Learning‐Based Approaches

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Objectives To identify predictors of chronic ITP (cITP) and to develop a model based on several machine learning (ML) methods to estimate the individual risk of chronicity at the timepoint of diagnosis. Methods We analyzed a longitudinal cohort of 944 children enrolled in the Intercontinental Cooperative immune thrombocytopenia (ITP) Study ...
Severin Kasser, Alice Bizeul, Meera Chitlur, Hugo Donato, Jelena Roganovic, Julia E. Vogt, Thomas Kühne   +6 more
wiley   +1 more source

Study of Biochemical Characters Gives an Insight into the Genetic Variation Present in F2 Populations of Ethiopian Mustard (Brassica carinata L.) [PDF]

, 2021
Muhammad Nauman, Iftikhar Ali, Nazir Ahmad, Fazli Ahad, Touheed Iqbal   +4 more
openalex   +1 more source

Mitochondrial DNA lineages of Italian Giara and Sarcidano horses [PDF]

, 2014
Giara and Sarcidano are 2 of the 15 extant native Italian horse breeds with limited dispersal capability that originated from a larger number of individuals. The 2 breeds live in two distinct isolated locations on the island of Sardinia. To determine the
Barbato, M., Cancedda, M., Contu, D., Francalacci, P., Morelli, L., Pala, Maria, Sanna, D., Useli, A.   +7 more
core   +1 more source

Prognostic Impact of Treatment Modalities, Including Targeted Compartmental Radio‐Immunotherapy, in a Cohort of Neuroblastoma Patients With CNS Metastases at Relapse

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Introduction Neuroblastoma (NB) with central nervous system (CNS) metastases is rare at diagnosis, but occurs more often during relapse/progression. Patients with CNS metastases face a dismal prognosis, with no standardized curative treatment available.
Vicente Santa‐Maria Lopez, Anna Felip‐Badia, Marina Caballero‐Bellon, Nazaret Sanchez‐Sierra, Alicia Castañeda, Moira Garraus, Maite Gorostegui, Margarida Simão‐Rafael, Juan Pablo Muñoz, Marta Perez‐Somarriba, Salvador Mañe, Mariana Cecilia Planells, Sara Perez‐Jaume, Jaume Mora   +13 more
wiley   +1 more source

Human Genetic Variation and Parkinson’s Disease [PDF]

Journal of Movement Disorders, 2010
Parkinson’s disease (PD) is a chronic neurodegenerative disorder with multifactorial etiology. In the past decade, the genetic causes of monogenic forms of familial PD have been defined.
Sun Ju Chung
doaj   +1 more source

Pathogenic Germline PALB2 and RAD50 Variants in Patients With Relapsed Ewing Sarcoma

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Approximately 10% of patients with Ewing sarcoma (EwS) have pathogenic germline variants. Here, we report two cases: first, a novel germline pathogenic variant in partner and localizer of BRCA2 (PALB2) in a patient with a late EwS relapse. Its impact on homologous recombination is demonstrated, and breast cancer risk is discussed.
Molly Mack, A. Carolina Tufino, Mohd Azrin Jamalruddin, Sreya Dey, Yinghong Pan, Elina Mukherjee, Jessica D. Daley, Julia Meade, Mahmoud Aarabi, Lisa Maurer, James Cooper, Kara A. Bernstein, Kelly M. Bailey   +12 more
wiley   +1 more source

Climatic niche and neutral genetic diversity of the six Iberian pine species: a retrospective and prospective view [PDF]

, 2010
Quaternary climatic fluctuations have left contrasting historical footprints on the neutral genetic diversity patterns of existing populations of different tree species.
Soto de Viana, Álvaro
core   +2 more sources

Improved Outcomes for Older Children, Adolescents, and Young Adults With Neuroblastoma in the Post‐Immunotherapy Era: An Updated Report From the International Neuroblastoma Risk Group

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background We describe clinical and biologic characteristics of neuroblastoma in older children, adolescents, and young adults (OCAYA); describe survival outcomes in the post‐immunotherapy era; and identify if there is an age cut‐off that best discriminates outcomes.
Rebecca J. Deyell, Kavitha Srivatsa, Paola Angelini, Pei‐Chi Kao, Brady Payne, Arlene Naranjo, Sveva Castelli, Miho Kato, Miki Ohira, Ulriche Pöetschger, Yaël Mossé, Lucas Moreno, Meredith S. Irwin, Ramya Ramanujachar, Wendy B. London   +14 more
wiley   +1 more source

Genetic Assimilation and Canalisation in the Baldwin Effect [PDF]

, 2005
The Baldwin Effect indicates that individually learned behaviours acquired during an organism’s lifetime can influence the evolutionary path taken by a population, without any direct Lamarckian transfer of traits from phenotype to genotype.
C.H. Waddington, D. Federici, D.C. Dennet, G.E. Hinton, G.G. Simpson, I. Harvey, J. Wiles, J.M. Baldwin, R.A. Watson, R.J. Richards, R.K. Belew, R.M. French   +11 more
core   +1 more source