Results 221 to 230 of about 209,653 (293)

Genetic dissection of nonconventional introns reveals codominant noncanonical splicing code in <i>Euglena</i>. [PDF]

Proc Natl Acad Sci U S A
Nomura T, Kim JS, Iwata O, Yamada K, Atsuji K, Uehara-Yamaguchi Y, Yoshida T, Inoue K, Takahagi K, Sakurai T, Shinozaki K, Ito T, Suzuki K, Goda K, Mochida K.   +14 more
europepmc   +1 more source

ParaHox Genes Revisited: From Gut Patterning to Integrated Axial and Neural Organization in Rotifera

Journal of Experimental Zoology Part B: Molecular and Developmental Evolution, EarlyView.
In rotifers, ParaHox genes show a dispersed genomic organization, with Xlox absent across gnathiferans. Exclusive neuronal expression of Gsx and Cdx reveals that ancestral ParaHox genes coordinated neural and epithelial development beyond gut patterning, suggesting an integrated role in early bilaterian body plan organization.
Andreas C. Fröbius, David B. Mark Welch, Holger Herlyn   +2 more
wiley   +1 more source

Miniature inverted repeat transposable elements in the genome of sugar beet and their impact on gene expression. [PDF]

Sci Rep
Morańska E, Machaj G, Piestrzyńska W, Szewczyk M, Skrabucha M, Sitarski A, Macko-Podgórni A, Grzebelus D.   +7 more
europepmc   +1 more source

PERCC1‐associated enteropathy: Diagnostic challenges and enteral autonomy achieved with teduglutide

JPGN Reports, EarlyView.
Abstract Congenital diarrheas and enteropathies (CODE) are rare inherited disorders characterized by early‐onset intractable diarrhea. Though progress has been made in elucidating the genetic basis of CODE, much remains to be discovered. Another challenge is the lack of curative therapies—treatment is primarily supportive including enteral and ...
Angela Tran, Vivien Nguyen, Phuong Huynh
wiley   +1 more source

Eukan: a fully automated nuclear genome annotation pipeline for less studied and divergent eukaryotes. [PDF]

NAR Genom Bioinform
Sarrasin M, Burger G, Lang BF.
europepmc   +1 more source

Motor and Cognitive Outcome After Subthalamic Nucleus Deep Brain Stimulation in Patients with Parkinson's Disease Harboring GBA1 Variant

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Deep brain stimulation (DBS) is effective for Parkinson's disease (PD); however, its efficacy varies with genetic background, such as the GBA1 variant—the causative gene of Gaucher disease—associated with increased PD risk and cognitive decline after subthalamic nucleus (STN)‐DBS.
Hikaru Kamo, Genko Oyama, Mai Shimizu, Haruka Takeshige‐Amano, Takashi Ogawa, Wataru Sako, Noriko Nishikawa, Taku Hatano, Yuanzhe Li, Hiroyo Yoshino, Manabu Funayama, Masanobu Ito, Hirokazu Iwamuro, Atsushi Umemura, Nobutaka Hattori   +14 more
wiley   +1 more source

A record-setting mitogenome in the holoparasitic plant Balanophora yakushimensis accompanied by exceptional loss of organellar DNA repair and recombination genes. [PDF]

BMC Biol
Yu R, Zhi X, Ceriotti LF, Skippington E, Rice DW, Su HJ, Barkman TJ, Sun C, Liu Y, Fang D, Chen X, dePamphilis CW, Mower JP, Sanchez-Puerta MV, Palmer JD, Zhou R.   +15 more
europepmc   +1 more source

Loss‐of‐Function Variants in CPT1C: No Support for a Causal Role in Hereditary Spastic Paraplegia

Movement Disorders, EarlyView.
Abstract Background Hereditary spastic paraplegias (HSPs) are neurodegenerative disorders characterized by lower‐limb spasticity. Pathogenic variants in CPT1C have been implicated in HSP. Objective The objective of this study was to assess whether CPT1C loss‐of‐function (LOF) variants are causally associated with HSP.
Rui Zhu, Lang Liu, Mehrdad A. Estiar, Farnaz Asayesh, Jamil Ahmad, Meron Teferra, Grace Yoon, Mark Tarnopolsky, Kym M. Boycott, Nicolas Dupre, Patrick A. Dion, Oksana Suchowersky, Albena Jordanova, Yi‐Chung Lee, Giovanni Stevanin, Stephan Zuchner, Guy A. Rouleau, Ziv Gan‐Or   +17 more
wiley   +1 more source

Identification and expression analysis of apple CYP family genes in different rootstock-scion combination. [PDF]

BMC Plant Biol
Ma W, Liang G, Zhao J, Wu X, Ma Z, Chen B, Mao J.   +6 more
europepmc   +1 more source

Multimodal Imaging Investigation of the Dentato‐Thalamo‐Cortical Pathway in Friedreich's Ataxia

Movement Disorders, EarlyView.
Abstract Background Friedreich's ataxia (FRDA) is a spinocerebellar neurodegenerative disorder. The dentato‐thalamo‐cortical (DTC) pathway, an important cerebellar output involved in motor control, plays a crucial role in the neural mechanisms underlying ataxia symptoms in FRDA.
Yinghua Jing, Imis Dogan, Ravi Dadsena, Jennifer Faber, Jörg B. Schulz, Kathrin Reetz, Sandro Romanzetti, on behalf of the FACROSS study group, Stella A. Lischewski, Kerstin Konrad, Miguel Pishnamaz, Maximillian Praster, Thomas Clavel, Vera Jankowski, Joachim Jankowski, Oliver Pabst, Katharina Marx‐Schütt, Nikolaus Marx, Julia Möllmann, Malte Jacobsen, Juergen Dukart, Simon Eickhoff, Ralf‐Dieter Hilgers   +22 more
wiley   +1 more source