Results 161 to 170 of about 85,067 (289)

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle, Jesse D. Bengtsson, Mira Gandhi, Christopher M. Grochowski, Ming Yin Lun, Neha Sudhir, Shalini N. Jhangiani, Fritz J. Sedlazeck, Seema R. Lalani, Neil A. Hanchard, Claudia M. B. Carvalho   +10 more
wiley   +1 more source

A novel mouse model simulating C5 palsy after cervical surgery

Animal Models and Experimental Medicine, EarlyView.
This study establishes a reliable mouse model of permanent C5 palsy (post‐laminectomy complication) via dorsal approach, selectively severing the C5 anterior nerve root while preserving the posterior root through partial C4 and C5 laminectomy. The model successfully replicates clinical C5P features—flaccid shoulder paralysis, electrophysiological ...
Chenpei Xu, Xianghe Wang, Mingjie Zhou, Chuxiang Chen, Tingzheng Jiang, Fei Wang, Kaixiang Yang, Hongli Wang, Su Jiang   +8 more
wiley   +1 more source

Overcoming a legacy of mistrust: towards reconciliation between the state and the displaced [PDF]

, 2006
Celik, Ayse Betul, Kurban, Dilek, Yukseker, H. Deniz, Yükseker, H. Deniz, Çelik, Ayşe Betül   +4 more
core  

Alternative Translation Initiation in PRKN Delays the Onset of Parkinson's Disease and Offers a Therapeutic Target

Annals of Neurology, EarlyView.
Objective Biallelic variants in PRKN cause autosomal recessive Parkinson's disease (PD) with a median age at onset of 31 years. When evaluating the 16 previously published carriers of a homozygous deletion of Exon 2 from the International Parkinson's Disease and Movement Disorder Society Gene Database (MDSGene) database, the median age at onset is ...
Arian Hach, Katja Lohmann, Manabu Funayama, Poornima J. Menon, Eva‐Juliane Vollstedt, Teresa Kleinz, Hiroyo Yoshino, Suzanne Lesage, Britta Meier, Carolyn M. Sue, Jean‐Christophe Corvol, Alexis Brice, Nobutaka Hattori, Christine Klein, Aleksandar Rakovic   +14 more
wiley   +1 more source

Extreme rainfall, flooding and malaria in the Sahara: outbreak analysis in Kidal, Mali 2024. [PDF]

Malar J
Dolo AM, Cissoko M, Teme A, Keita K, Sanogo M, Traoré CAT, Magassa M, Koné A, Roy FA, Sagara I, Gaudart J.   +10 more
europepmc   +1 more source

Displacement Disparity: Filling the Gap of Protection for the Environmentally Displaced Person [PDF]

, 2012
Cudiamat, Nicole Angeline
core   +1 more source

Evidence on interventions that promote the mental health and psychosocial wellbeing of migrant, refugee and asylum-seeker children and adolescents in transit: a scoping literature review. [PDF]

Int J Equity Health
Aranda Z, Mata-González H, Brossault A, Kisbu Y, She X, Sedas AC, Bernal D, Pulido-Manzanero J, Regidor E, Mandalakas AM, Fredricks K.   +10 more
europepmc   +1 more source

Ribozymes for RNA‐Catalyzed RNA Methylation and Labeling

Angewandte Chemie International Edition, EarlyView.
Ribozymes are powerful tools for site‐specific RNA modification. Their activities range from installing tags and fluorophores to generating natural RNA methylations, making them valuable tools to uncover the many functions that RNA plays in nature.
Carolin P. M. Scheitl, Claudia Höbartner   +1 more
wiley   +1 more source

Prevalence of Substance Use in Northwest Syria: A Cross-Sectional Study. [PDF]

Int J Public Health
Draper I, Albaba D, Mesbah H, Taktak H, Saadoun N, Alhusein M, Alissa E, Barbour A, Sahloul Z, Moukaddam N.   +9 more
europepmc   +1 more source

Polyfluoroalkyl‐Tagged Cell‐Penetrating Peptide‐Additives Enhance Intracellular Protein Delivery via Sustained Monomeric Lipid Interaction

Angewandte Chemie International Edition, EarlyView.
We introduce cell‐penetrating peptides (CPPs) with polyfluoroalkyl‐tags that drastically enhance intracellular protein delivery by promoting membrane retention. Via the combination of live‐cell imaging, biophysical analysis, and computational simulations, we reveal how fluorous CPPs interact with membranes via monomeric interactions and dynamic tag ...
Sarah Hansen, Hana Zupan, Ferhat Mutlu, Jan Vincent V. Arafiles, Rubén Cruz, Palina Dubatouka, Kenichi Ataka, Martin Lehmann, Bettina G. Keller, Joachim Heberle, Christian P. R. Hackenberger   +10 more
wiley   +1 more source