Results 271 to 280 of about 397,235 (339)

Pre-mRNA Splicing Functions in Plant Sexual Reproduction Development. [PDF]

Plants (Basel)
Shao D, Gao X, Wei Y.
europepmc   +1 more source

Interactive Bioinformatics Lab: Using Genomic Databases for Active Learning in Dentistry

Journal of Dental Education, EarlyView.
François Isnaldo Dias Caldeira, Raquel Mantuaneli Scarel‐Caminaga   +1 more
wiley   +1 more source

Repeat Expansions with Small TTTCA Insertions in MARCHF6 Cause Familial Myoclonus without Epilepsy

Movement Disorders, EarlyView.
Abstract Background Familial adult myoclonus epilepsy (FAME) is a rare autosomal dominant disorder caused by the same intronic TTTTA/TTTCA repeat expansion in seven distinct genes. TTTTA‐only expansions are benign, whereas those containing TTTCA insertions are pathogenic.
Theresa Kühnel, Elsa Leitão, Renate Lunzer, Fabian Kilpert, Sabine Kaya, Claudia Del Gamba, Kelly Astudillo, Steven Frucht, Marion Simonetta‐Moreau, Eric Bieth, Iris Unterberger, Giulietta Maria Riboldi, Christel Depienne   +12 more
wiley   +1 more source

CpG methylation changes associated with hyperglycemia in type 1 diabetes occur at angiogenic glomerular and retinal gene loci. [PDF]

Sci Rep
Shao X, Le Fur S, Cheung W, Belot MP, Perge K, Bouhours-Nouet N, Bensignor C, Levaillant L, Ge B, Kwan T, Lathrop M, Pastinen T, Bougnères P.   +12 more
europepmc   +1 more source

A complex response element in intron 1 of the androgen-regulated 20-kDa protein gene displays cell type-dependent androgen receptor specificity.

, 1993
K C Ho, Keith B. Marschke, Jian Tan, Stephanie Power, Elizabeth M. Wilson, Frank S. French   +5 more
openalex   +1 more source

Genetic Risk Factors in Normal Pressure Hydrocephalus: What We Know and What Is Next

Movement Disorders, EarlyView.
Abstract Knowledge of the genetic factors in normal pressure hydrocephalus (NPH) is rapidly evolving, with significant advances in recent years. We conducted a systematic review examining genetic contributions to NPH risk. Ovid Embase, Ovid Medline, Web of Science, and Cochrane Central were searched from inception through October 14, 2024, for human ...
Camila C. Piccinin, Saar Anis, Jeryl Ritzi T. Yu, Philippe A. Salles, Henry Mauricio Chaparro‐Solano, Avery Kundrick, Shelley Ivary, James Y. Liao, Sean J. Nagel, Ignacio F. Mata   +9 more
wiley   +1 more source

A Novel Homozygous 9385 bp Deletion in the <i>FERMT1</i> (<i>KIND1</i>) Gene in a Malaysian Family with <i>Kindler Epidermolysis bullosa</i> and a Review of Large Deletions. [PDF]

Int J Mol Sci
Klausegger A, Leditzky F, Krämer S, Palisson F, Yubero MJ, Véliz S, Koh MJA, Tan EC, Laimer M, Bauer JW, Fuentes I.   +10 more
europepmc   +1 more source

Early‐Onset Movement Disorder Syndrome Caused by Biallelic Variants in PDE1B Encoding Phosphodiesterase 1B

Movement Disorders, EarlyView.
Abstract Background Breakdown of cyclic adenosine monophosphate (cAMP) and cyclic guanosine monophosphate (cGMP) in basal ganglia cells through hydrolysis of diesteric bonds, primarily by PDE10A and PDE1B, is essential for normal human movement. While biallelic loss‐of‐function variants in PDE10A are known to cause hyperkinetic movement disorders, the ...
Tomer Poleg, Noam Hadar, Eyal Kristal, Nicola Y. Roberts, Vadim Dolgin, Ilana Aminov, Amit Safran, Nadav Agam, Matan Jean, Ofek Freund, Eamonn G. Sheridan, James A. Poulter, Michelle L. Thompson, Yusra Algoos, Salma Al‐Qahtani, Lama AlAbdi, Sateesh Maddirevula, Verity Hartill, Henry Houlden, Reza Maroofian, Amit Nahum, Ohad S. Birk   +21 more
wiley   +1 more source

Biogenesis of circular RNAs in vitro and in vivo from the Drosophila Nk2.1/scarecrow gene. [PDF]

G3 (Bethesda)
Jeong H, Son S, Lee G, Park JH, Yoo S.
europepmc   +1 more source

Increase of Plasma Biomarkers in Friedreich's Ataxia: Potential Insights into Disease Pathology

Movement Disorders, EarlyView.
Abstract Background Therapeutic interventions in Friedreich's ataxia (FRDA) are progressing into clinical trials, and the need for robust and easily accessible biomarkers has arisen. Objective This study aimed to consolidate preliminary findings of changes in the levels of neurofilament light (NfL), glial fibrillary acidic protein (GFAP), Tau, and ...
Christian Rummey, Gilbert Thomas‐Black, Hector Garcia‐Moreno, David R. Lynch, Rosella Abeti, Huseyin Arisoy, Amanda Heslegrave, Henrik Zetterberg, Paola Giunti, the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS)   +9 more
wiley   +1 more source