Results 51 to 60 of about 605,923 (256)

Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations

Kidney International Reports, 2020
Introduction: Autosomal dominant tubulo-interstitial kidney disease due to UMOD mutations (ADTKD-UMOD) is a rare condition associated with high variability in the age of end-stage kidney disease (ESKD).
Kendrah Kidd, Petr Vylet’al, Céline Schaeffer, Eric Olinger, Martina Živná, Kateřina Hodaňová, Victoria Robins, Emily Johnson, Abbigail Taylor, Lauren Martin, Claudia Izzi, Sofia C. Jorge, Joaquim Calado, Rosa J. Torres, Karl Lhotta, Dominik Steubl, Daniel P. Gale, Christine Gast, Eva Gombos, Hannah C. Ainsworth, Ying Maggie Chen, Jorge Reis Almeida, Cintia Fernandes de Souza, Catarina Silveira, Rita Raposeiro, Nelson Weller, Peter J. Conlon, Susan L. Murray, Katherine A. Benson, Gianpiero L. Cavalleri, Miroslav Votruba, Alena Vrbacká, Antonio Amoroso, Daniela Gianchino, Gianluca Caridi, Gian Marco Ghiggeri, Jasmin Divers, Francesco Scolari, Olivier Devuyst, Luca Rampoldi, Stanislav Kmoch, Anthony J. Bleyer   +41 more
doaj   +1 more source

phenotype

, 2015
phenotype and experimental ...
Ilga Porth (138357), Jaroslav Klapste (3298053), Yousry El-Kassaby (3298056), Klapste, Jaroslav, Charles Chen (121346), Jaquish, Barry, Gamal El-Dien, Omnia, Porth, Ilga, Omnia Gamal El-Dien (3245454), El-Kassaby, Yousry, Chen, Charles, Blaise Ratcliffe (3245460), Barry Jaquish (138362), Ratcliffe, Blaise   +13 more
core   +1 more source

phenotype

, 2012
Phenotype data for 280 lines in the Nebraska Wheat Breeding Program measured in 2010 at nine testing ...
Jose Crossa (3294642), Baenziger, P. S., Dong Wang (73290), Wang, Dong, Ibrahim El-Basyoni (3294645), P. S. Baenziger (3294651), Crossa, Jose, Dweikat, I., I. Dweikat (3294648), El-Basyoni, Ibrahim, Kent Eskridge (175928), Eskridge, Kent   +11 more
core   +1 more source

Top-ranked gene-phenotype-MOI relations reported by phenogenon.

, 2020
Top-ranked gene-phenotype-MOI relations reported by phenogenon.
Nikolas Pontikos (4611358), Gavin Arno (4611343), Dayyanah Sumodhee (8693898), Andrew Webster (3471632), Jing Yu (81085), Yu Fujinami (8693895), Susan Downes (8693901), Kaoru Fujinami (4568248), Ismail Moghul (4369453), Cian Murphy (2940333)   +9 more
core   +1 more source

Perspective: Is Random Monoallelic Expression a Contributor to Phenotypic Variability of Autosomal Dominant Disorders?

Frontiers in Genetics, 2017
Several factors have been proposed as contributors to interfamilial and intrafamilial phenotypic variability in autosomal dominant disorders, including allelic variation, modifier genes, environmental factors and complex genetic and environmental ...
Baoheng Gui, Baoheng Gui, Jesse Slone, Taosheng Huang   +3 more
doaj   +1 more source

Arrhythmogenic Ventricular Cardiomyopathy

JACC: Case Reports, 2021
After a 20-year-old woman suddenly died, autopsy showed characteristic findings of biventricular arrhythmogenic cardiomyopathy. Screening of her family members revealed the same desmoplakin gene mutation and imaging abnormalities predominantly involving ...
Aranyak S. Rawal, MD, Tara VanCleave, BS, Neeraja Yedlapati, MD, Jeffery E. Saffitz, MD, PhD, William James Craigen, MD, PhD, John L. Jefferies, MD, MPH   +5 more
doaj   +1 more source

Rotatin’ the phenotypes

Brain, 2019
No abstract ...
Uzquiano, Ana, Francis, Fiona
openaire   +2 more sources

Phenotype and Function of Activated Natural Killer Cells From Patients With Prostate Cancer: Patient-Dependent Responses to Priming and IL-2 Activation

Frontiers in Immunology, 2019
Background: Although immunotherapy has emerged as the “next generation” of cancer treatments, it has not yet been shown to be successful in the treatment of patients with prostate cancer, for whom therapeutic options remain limited to radiotherapy and ...
Simon P. Hood, Gemma A. Foulds, Heather Imrie, Stephen Reeder, Stéphanie E. B. McArdle, Masood Khan, Alan Graham Pockley   +6 more
doaj   +1 more source

Phenotypic cliffs in the RNA genotype–phenotype map

Journal of the Royal Society Interface
Abstract Point mutations of a genotype can leave the phenotype unchanged, or change it, in some cases radically. The extent of this phenotypic change can critically impact fitness. To investigate the range of possible phenotypic changes that result from point mutations, we analyse the structure of the well-established RNA genotype ...
Paula García-Galindo, Sebastian Ahnert
openaire   +2 more sources

Neuropsychological and Educational Outcomes in Shwachman–Diamond Syndrome—A Report From the North American Shwachman–Diamond Syndrome Registry

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Shwachman–Diamond syndrome (SDS) is a rare autosomal recessive ribosomopathy characterized by bone marrow failure and multisystem involvement, with emerging evidence of associated neurocognitive impairment. Methods We conducted a retrospective study of 240 individuals with biallelic Shwachman–Bodian–Diamond syndrome (SBDS) mutations
Jane Koo, Melissa Gerstle, Leah Cheng, Richard Cooper, Katherine Coyne, Claire Dusa, Naomi E. Joffe, Diana Schwarz, Sarah Steltz, Akiko Shimamura, Kasiani C. Myers, Thea Quinton   +11 more
wiley   +1 more source