Results 161 to 170 of about 256,625 (325)

LRRK2 as a Potential Disease‐Modifying Target in Sporadic Parkinson's Disease

Movement Disorders, EarlyView.
Abstract A growing understanding of the role that leucine‐rich repeat kinase 2 (LRRK2) plays in Parkinson's disease (PD) supports continued focus on this enzyme as a therapeutic target for PD. Accumulating evidence suggests that there are phenotypic, neuropathologic, and biological similarities between sporadic PD (sPD) and familial forms in which ...
Anthony E. Lang, Robert A. Hauser, Lorraine V. Kalia, Bonnie Hersh, Zdenek Berger, Roy Llorens Arenas, Coro Paisan‐Ruiz, Kyle Fraser, Danna Jennings, Jillian H. Kluss, Sarah Huntwork‐Rodriguez, Anastasia G. Henry, J. Timothy Greenamyre   +12 more
wiley   +1 more source

Gene List Selection Matters: Missed Diagnoses in Prenatal Exome Sequencing—PanelApp R21 and HPO‐Driven Versus OMIM‐Based Gene Lists

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate whether the causative variants found upon clinical exome sequencing in fetuses affected with selected structural anomalies would also be detected if PanelApp‐R21 or Human Phenotype Ontology (HPO)‐driven gene selection terms were applied instead.
Victoria Ardiles‐Ruesjas, Laia Rodriguez‐Revenga, Montse Pauta, Alfons Nadal, Gemma Arca, Laura Gort, Stiven Ernesto Sinisterra‐Díaz, Antoni Borrell   +7 more
wiley   +1 more source

Identical RT1 class II molecules are expressed by rat RT1m and RT1c haplotypes. [PDF]

, 1985
Janet A. Sawicki, J G Frelinger, Melanie Palmer, David Buck, Bernhard Dietzschold, Peter J. Wettstein   +5 more
openalex   +1 more source

CRPPA exon 6–9 deletion as a founder mutation in Chinese patients with dystroglycanopathy

Pediatric Investigation, EarlyView.
Analysis of sixteen Chinese dystroglycanopathy patients reveals a founder mutation (CRPPA exon 6–9 deletion) in 25% of cases and expands the phenotypic spectrum from severe muscle‐eye‐brain disease to limb‐girdle muscular dystrophy. ABSTRACT Importance Dystroglycanopathies (DGPs) are a group of muscular dystrophies with abnormal glycosylation of ...
Jihang Luo, Yidan Liu, Danyu Song, Shiqi Yang, Xiaona Fu, Lin Ge, Cuijie Wei, Liya Cui, Yanbin Fan, Huaxia Luo, Yanwei He, Jin Xu, Qiang Shen, Yuxuan Guo, Motoi Kanagawa, Tatsushi Toda, Jingmin Wang, Hong Zhang, Hui Xiong   +18 more
wiley   +1 more source

The potential of seedbank digital information in plant conservation

PLANTS, PEOPLE, PLANET, EarlyView.
Seedbanks are vital for biodiversity conservation, but their potential remains underutilised due to a limited understanding of the intraspecific genetic diversity they hold. By leveraging digitised data associated with seedbank collections, such as sampling locations, number of maternal plants and seed traits, we can attempt the estimation of genetic ...
Roberta Gargiulo, Sean Hoban, Anne M. Visscher, Pablo Gómez Barreiro, Roberta L. C. Dayrell, Kiran L. Dhanjal‐Adams, Alice R. Hudson, Charlotte E. Seal, Simon Kallow, Jan Sala, Lee Oliver, Naomi Carvey, Ted Chapman, Efisio Mattana, Clare Callow, Christopher Cockel, Michael F. Fay, Juan Viruel, Inna Birchenko, Stephanie Miles, Timothy Pearce, Paul Kersey, Elinor Breman, Kate A. Hardwick   +23 more
wiley   +1 more source

Engineering compact Physalis peruviana (goldenberry) to promote its potential as a global crop

PLANTS, PEOPLE, PLANET, EarlyView.
Goldenberry (Physalis peruviana) produces sweet, nutritionally rich berries, yet like many minor crops, is cultivated in limited geographical regions and has not been a focus of breeding programs for trait enhancement. Leveraging knowledge of plant architecture‐related traits from related species, we used CRISPR/Cas9‐mediated gene editing to generate a
Miguel Santo Domingo, Blaine Fitzgerald, Gina M. Robitaille, Srividya Ramakrishnan, Kerry Swartwood, Nicholas G. Karavolias, Michael C. Schatz, Joyce Van Eck, Zachary B. Lippman   +8 more
wiley   +1 more source

Haplotyping

Indian Journal of Medical Research, 2018
openaire   +1 more source

Speciation with gene flow

PLANTS, PEOPLE, PLANET, EarlyView.
Biodiversity is threatened by human activities, with extinction debt accumulating rapidly. Many of these activities change the connectivity of populations, fragmenting existing population systems or bringing previously isolated populations or species into contact.
Zhiqin Long, Xu Zhang, Yue Yu, Gregory L. Owens, Diana J. Rennison, Clarisse Palma‐Silva, Daniel Ortiz‐Barrientos, Loren H. Rieseberg   +7 more
wiley   +1 more source

Haplotype [PDF]

, 2019
openaire   +3 more sources

J-L26 modal sub-haplotypes NJ tree

, 2012
Christian Rottensteiner
openalex   +1 more source