Results 1 to 10 of about 395,077 (304)

Dissecting the phenotypic variability of osteogenesis imperfecta

Disease Models & Mechanisms, 2022
Osteogenesis imperfecta (OI) is a heterogeneous family of collagen type I-related diseases characterized by bone fragility. OI is most commonly caused by single-nucleotide substitutions that replace glycine residues or exon splicing defects in the COL1A1
Nadia Garibaldi, Roberta Besio, Raymond Dalgleish, Simona Villani, Aileen M. Barnes, Joan C. Marini, Antonella Forlino   +6 more
doaj   +4 more sources

Phenotypic Variability and Paternal Inheritance of a CHD8 Variant Causing Intellectual Developmental Disorder With Autism and Macrocephaly Confirmed by Epigenetic and Structural Analyses [PDF]

Molecular Genetics & Genomic Medicine
Background Intellectual developmental disorder with autism and macrocephaly (IDDAM, OMIM #615032) is an autosomal dominant neurodevelopmental disorder characterized primarily by intellectual disability, autism spectrum disorder, macrocephaly, tall ...
Yutaka Furuta, Kimberly M. Ezell, Rizwan Hamid, Joy D. Cogan, Thomas A. Cassini, Lynette Rives, Ashley McMinn, Shailee Shah, Amanda C. Peltier, Stephen Layfield, Robin S. Fletcher, Matthew L. Tedder, Raymond J. Louie, Jennifer A. Lee, Jennifer Kerkhof, Jessica Rzasa, Bekim Sadikovic, Abdullah Al Mamun, Jonathan H. Sheehan, Christopher W. Moth, Jens Meiler, Marissa Vawter‐Lee, Paola Maria Mendoza‐Sengco, Jennifer B. Holzen, Sumit Pruthi, John A. Phillips III, Rory J. Tinker, the Undiagnosed Diseases Network   +27 more
doaj   +2 more sources

Phenotypic variability in the shield morphology of wild- vs. lab-reared eumalacostracan larvae [PDF]

Nauplius, 2023
Morphological identification of planktic crustacean larvae is required in many scientific contexts, such as ecology or taxonomy. Due to a still low availability of genetic sequences for many ingroups of Eumalacostraca, this task is still more feasible by
Florian Braig, Carolin Haug, Joachim T. Haug   +2 more
doaj   +1 more source

Morphological and dasometric characterization of Mimosa trianae and Cassia moschata from AGROSAVIA collection

Temas Agrarios, 2021
Cañafistol (Cassia moschata Kunth) and yopo (Mimosa trianae Benth.) are important native species in the Colombian Orinoco Region, however, their behavior in a monoculture system and genetic variability are unknown.
Sandra L. Castañeda Garzón, Jessica Moreno Barragán, Jorge H. Argüelles Cárdenas, Hebert Camargo Tamayo, Jhon J. Zuluaga Peláez   +4 more
doaj   +1 more source

Variability of an Early Developmental Cell Population Underlies Stochastic Laterality Defects

Cell Reports, 2021
Summary: Embryonic development seemingly proceeds with almost perfect precision. However, it is largely unknown how much underlying microscopic variability is compatible with normal development.
Roberto Moreno-Ayala, Pedro Olivares-Chauvet, Ronny Schäfer, Jan Philipp Junker   +3 more
doaj   +1 more source

Overview of Monogenic Forms of Hypertension Combined With Hypokalemia

Frontiers in Pediatrics, 2021
Hypertension is an important risk factor in many conditions and creates a heavy burden of disease and mortality globally. Polygenic hypertension is the most common form; however, it is increasingly recognized that monogenic hypertension is not rare ...
Yi-Ting Lu, Peng Fan, Di Zhang, Ying Zhang, Xu Meng, Qiong-Yu Zhang, Lin Zhao, Kun-Qi Yang, Xian-Liang Zhou   +8 more
doaj   +1 more source

Phenotypic flexibility and the evolution of organismal design [PDF]

, 2003
Evolutionary biologists often use phenotypic differences between species and between individuals to gain an understanding of organismal design. The focus of much recent attention has been on developmental plasticity – the environmentally induced ...
Drent, Jan,, Piersma, Theunis,
core   +3 more sources

Phenotypic robustness can increase phenotypic variability after non-genetic perturbations in gene regulatory circuits [PDF]

, 2010
Non-genetic perturbations, such as environmental change or developmental noise, can induce novel phenotypes. If an induced phenotype confers a fitness advantage, selection may promote its genetic stabilization. Non-genetic perturbations can thus initiate
Ancel, Aubret, Azevedo, Bergman, Ciliberti, Ciliberti, Cooper, Davidson, de Jong, de Visser, Draghi, Draghi, Eldar, Elowitz, Espinosa-Soto, Espinosa-Soto, Ferrada, Fraser, Gibson, Gilbert, Gomez-Mestre, Griswold, Hall, Hermisson, Kim, Kimbrell, Kondrashov, Lande, Ledon-Rettig, Lehner, Levy, Lipman, Martin, Martin, Masel, Masel, Masel, McAdams, Meiklejohn, Moczek, Newman, Orr, Palmer, Palmer, Pigliucci, Pigliucci, Price, Proulx, Prud'homme, Raj, Rice, Roberts, Rodrigues, Rutherford, Schmalhausen, Schultes, Schuster, Shubin, Siegal, Snell-Rood, Sollars, Suzuki, Tirosh, van Nimwegen, Waddington, Waddington, Wagner, Wagner, Wagner, Wagner, Wagner, West-Eberhard, West-Eberhard, Wray   +73 more
core   +3 more sources

Phenotypic diversity assessment of Moroccan loquat using multiple correspondence analysis [PDF]

Journal of Agricultural Sciences (Belgrade), 2023
The loquat fruit has a very important commercial value due to its benefits for human health. However, there is very limited scientific research on this species in Morocco.
Kabiri Ghizlane, Kodad Oussama, Hernandez Francisca, Zahra Lachkham Fatima, Ennahli Said, Hanine Hafida   +5 more
doaj   +1 more source

Transgressivity in Key Functional Traits Rather Than Phenotypic Plasticity Promotes Stress Tolerance in A Hybrid Cordgrass [PDF]

, 2019
Hybridization might promote offspring fitness via a greater tolerance to environmental stressors due to heterosis and higher levels of phenotypic plasticity.
Castillo Segura, Jesús Manuel, Drenovsky, Rebecca E., Gallego Tévar, Blanca, Grewell, Brenda J.   +3 more
core   +1 more source