Results 161 to 170 of about 156,383 (305)

Haplotyping

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

Optical mapping reveals a higher level of large‐scale structural variants in a family with paternally transmitted myotonic dystrophy and independent Parkinson's disease

The Journal of Pathology, EarlyView.
Abstract Myotonic dystrophy type 1 (DM1) is a clinically challenging multisystem neuromuscular hereditary disorder, with generational increase in severity and earlier age at onset. It is caused by an unstable cytosine‐thymine‐guanine repeat expansion at the DMPK locus, accompanied by associated genetic and epigenetic modifications.
Md Mehedi Hasan, Jenna Craddock, Tingting Gong, Ruth J Lyons, Igor Stevanovski, Sanjog R Chintalaphani, Ira W Deveson, Weerachai Jaratlerdsiri, Kishore R Kumar, Vanessa M Hayes   +9 more
wiley   +1 more source

HLA-DR Haplotype Diversity Revealed by Pangenome Sequence Analysis. [PDF]

HLA
Alexandrov N, Blair L, Wang T, Lowe D, Sayer DC.   +4 more
europepmc   +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

Multiple Origins of a Sex Ratio Supergene in Formica Ants. [PDF]

Mol Biol Evol
Lagunas-Robles G, Purcell J, Shimota E, Brelsford A.   +3 more
europepmc   +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

Accessing medically relevant complex regions with a pangenome graph of 20 near-complete Japanese haplotypes. [PDF]

Nat Commun
Suzuki Y, Owa C, Kobayashi H, Nakabayashi R, McNulty B, Violich I, Paten B, Miga KH, Morishita S.   +8 more
europepmc   +1 more source

No Evidence for an Association Between DIP2B Repeat Expansion and Neurological Disease

Movement Disorders, EarlyView.
Chia‐Ying Ko, Leon Schütz, Thomas Braun, Elena Buena‐Atienza, Nicolas Casadei, Danique Beijer, Ludger Schöls, Tobias B. Haack, Stephan Ossowski, Holger Hengel   +9 more
wiley   +1 more source

The potential effect of megafaunal extinctions on modern conservation of horse chestnut Aesculus hippocastanum

PLANTS, PEOPLE, PLANET, EarlyView.
Many plant species worldwide are struggling to regenerate due to the ongoing effects of climate change. These effects appear to be further exacerbated by the loss of keystone megafauna, which were important seed dispersers. By identifying the traits commonly seen in seeds spread by modern elephants, it is possible to predict which species likely ...
Andrew J. Tighe
wiley   +1 more source

Population Genetic Study of <i>vitellogenin</i> in Honey Bees (<i>Apis mellifera</i>) With European Ancestry Identifies Two Ancestral Genetic Backgrounds. [PDF]

Ecol Evol
Leipart V, Cartwright RA, Eyre-Walker A, Sandve SR, Amdam GV.   +4 more
europepmc   +1 more source