Results 41 to 50 of about 172,226 (152)

Genetic and phenotypic heterogeneity in pattern dystrophy [PDF]

British Journal of Ophthalmology, 2005
The pattern dystrophies (PD) represent a clinically heterogeneous family of inherited macular diseases frequently caused by mutations in the peripherin/RDS gene. Most previous studies have detailed the clinical findings in single families, making it difficult to derive data from which progression and visual outcome can be generalised.Families were ...
P J, Francis, D W, Schultz, A M, Gregory, M B, Schain, R, Barra, J, Majewski, J, Ott, T, Acott, R G, Weleber, M L, Klein   +9 more
openaire   +2 more sources

The evolution of division of labour in structured and unstructured groups

eLife, 2021
Recent theory has overturned the assumption that accelerating returns from individual specialisation are required to favour the evolution of division of labour.
Guy Alexander Cooper, Hadleigh Frost, Ming Liu, Stuart Andrew West   +3 more
doaj   +1 more source

Evolution of phenotypic plasticity leads to tumor heterogeneity with implications for therapy.

PLoS Computational Biology
Cancer is a significant global health issue, with treatment challenges arising from intratumor heterogeneity. This heterogeneity stems mainly from somatic evolution, causing genetic diversity within the tumor, and phenotypic plasticity of tumor cells ...
Simon Syga, Harish P Jain, Marcus Krellner, Haralampos Hatzikirou, Andreas Deutsch   +4 more
doaj   +1 more source

Phenotypic Heterogeneity in ORAI-1-Associated Congenital Myopathy

Global Medical Genetics
Introduction ORAI-1 is a plasma membrane calcium release-activated calcium channel that plays a crucial role in the excitation–contraction of skeletal muscles.
Dipti Baskar, Seena Vengalil, Kiran Polavarapu, Veeramani Preethish-Kumar, Gautham Arunachal, Ramya Sukrutha, Mainak Bardhan, Akshata Huddar, Gopikrishnan Unnikrishnan, Girish Baburao Kulkarni, Yasha T. Chickabasaviah, Rashmi Santhosh Kumar, Atchayaram Nalini, Saraswati Nashi   +13 more
doaj   +1 more source

Phenotypic heterogeneity of genomically-diverse isolates of Streptococcus mutans. [PDF]

PLoS ONE, 2013
High coverage, whole genome shotgun (WGS) sequencing of 57 geographically- and genetically-diverse isolates of Streptococcus mutans from individuals of known dental caries status was recently completed. Of the 57 sequenced strains, fifteen isolates, were
Sara R Palmer, James H Miller, Jacqueline Abranches, Lin Zeng, Tristan Lefebure, Vincent P Richards, José A Lemos, Michael J Stanhope, Robert A Burne   +8 more
doaj   +1 more source

An IS-mediated, RecA-dependent, bet-hedging strategy in Burkholderia thailandensis

eLife, 2023
Adaptation to fluctuating environmental conditions is difficult to achieve. Phase variation mechanisms can overcome this difficulty by altering genomic architecture in a subset of individuals, creating a phenotypically heterogeneous population with ...
Lillian C Lowrey, Leslie A Kent, Bridgett M Rios, Angelica B Ocasio, Peggy A Cotter   +4 more
doaj   +1 more source

Genotypic and phenotypic heterogeneity in familial microcoria [PDF]

British Journal of Ophthalmology, 2004
To describe the clinical features and genetic findings in two families presenting with microcoria inherited as an autosomal dominant trait.Both affected and unaffected members of two families displaying familial microcoria were examined. Flash photography or infrared pupillography were used to assess pupils, and a full ophthalmic examination including ...
F D, Bremner, H, Houlden, S E, Smith
openaire   +2 more sources

Heterozygous variants in PLCG1 affect hearing, vision, cardiac, and immune function

eLife
Phospholipase C isozymes (PLCs) hydrolyze phosphatidylinositol 4,5-bisphosphate (PIP2) into inositol 1,4,5-trisphosphate (IP3) and diacylglycerol (DAG), important signaling molecules involved in many cellular processes including Ca2+ release from the ...
Mengqi Ma, Yiming Zheng, Mingxi Deng, Shenzhao Lu, Xueyang Pan, Xi Luo, Michelle Etoundi, David Li-Kroeger, Kim C Worley, Lindsay C Burrage, Lauren S Blieden, Aimee Allworth, Wei-Liang Chen, Giuseppe Merla, Barbara Mandriani, Catherine E Otten, Pierre Blanc, Jill A Rosenfeld, Debdeep Dutta, Shinya Yamamoto, Michael F Wangler, Ian A Glass, Jingheng Chen, Elizabeth Blue, Paolo Prontera, Jeremie Rosain, Sandrine Marlin, Seema R Lalani, Hugo J Bellen, Undiagnosed Diseases Network   +29 more
doaj   +1 more source

Phenotypic and functional heterogeneity of bovine blood monocytes.

PLoS ONE, 2013
Murine and human peripheral blood monocytes are heterogeneous in size, granularity, nuclear morphology, phenotype and function. Whether and how bovine blood monocytes follow this pattern was analyzed in this study.
Jamal Hussen, Anna Düvel, Olivier Sandra, David Smith, Iain Martin Sheldon, Peter Zieger, Hans-Joachim Schuberth   +6 more
doaj   +1 more source

Increased prevalence of hybrid epithelial/mesenchymal state and enhanced phenotypic heterogeneity in basal breast cancer

iScience
Summary: Intra-tumoral phenotypic heterogeneity promotes tumor relapse and therapeutic resistance and remains an unsolved clinical challenge. Decoding the interconnections among different biological axes of plasticity is crucial to understand the ...
Sarthak Sahoo, Soundharya Ramu, Madhumathy G. Nair, Maalavika Pillai, Beatriz P. San Juan, Heloisa Zaccaron Milioli, Susmita Mandal, Chandrakala M. Naidu, Apoorva D. Mavatkar, Harini Subramaniam, Arpita G. Neogi, Christine L. Chaffer, Jyothi S. Prabhu, Jason A. Somarelli, Mohit Kumar Jolly   +14 more
doaj   +1 more source