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Items: 1 to 20 of 500

1.
High-Fat Diets Fed during Pregnancy Cause Changes to Pancreatic Tissue DNA Methylation and Protein Expression in the Offspring: A Multi-Omics Approach
Lindsey Eileen, Maria Peterson
Int J Mol Sci. 2024 Jul; 25(13): 7317. Published online 2024 Jul 3. doi: 10.3390/ijms25137317
PMCID:
PMC11242410
AbstractArticlePDF–5.8M
2.
Ectopic Activation of Fgf8 in Dental Mesenchyme Causes Incisor Agenesis and Molar Microdontia
Yu Wang, Jingjing Wang, Tian Xu, Shuhui Yang, Xinran Wang, Lei Zhu, Nan Li, Bo Liu, Jing Xiao, Chao Liu
Int J Mol Sci. 2024 Jul; 25(13): 7045. Published online 2024 Jun 27. doi: 10.3390/ijms25137045
PMCID:
PMC11241644
AbstractArticlePDF–13M
3.
Comparative Study of Condensed and Hydrolysable Tannins during the Early Stages of Zebrafish Development
Alessandra La Pietra, Roberta Imperatore, Elena Coccia, Teresa Mobilio, Ida Ferrandino, Marina Paolucci
Int J Mol Sci. 2024 Jul; 25(13): 7063. Published online 2024 Jun 27. doi: 10.3390/ijms25137063
PMCID:
PMC11241311
AbstractArticlePDF–2.4M
4.
Dietary Supplementation with n-3 Polyunsaturated Fatty Acids Delays the Phenotypic Manifestation of Krabbe Disease and Partially Restores Lipid Mediator Production in the Brain—Study in a Mouse Model of the Disease
Cinzia Signorini, Giovanna Pannuzzo, Adriana Carol Eleonora Graziano, Elena Moretti, Giulia Collodel, Venera Cardile
Int J Mol Sci. 2024 Jul; 25(13): 7149. Published online 2024 Jun 28. doi: 10.3390/ijms25137149
PMCID:
PMC11241235
AbstractArticlePDF–1.8M
5.
Col4a2 Mutations Contribute to Infantile Epileptic Spasm Syndrome and Neuroinflammation
Chunhui Hu, Deying Liu, Hua Wang
Int J Med Sci. 2024; 21(9): 1756–1768. Published online 2024 Jul 2. doi: 10.7150/ijms.97164
PMCID:
PMC11241092
AbstractArticlePDF–5.1M
6.
Trichohepatoenteric syndrome type 1: expanding the clinical spectrum of THES type 1 due to a homozygous variant in the SKIC3 gene
Abdullah Alrammal, Rashed Aljundi, Sedra Abu Ghedda, Buthaina Mustafa AlMurbati
BMC Pediatr. 2024; 24: 444. Published online 2024 Jul 10. doi: 10.1186/s12887-024-04924-7
PMCID:
PMC11234776
AbstractArticlePDF–656K
7.
Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly
Amama Ghaffar, Tehmeena Akhter, Petter Strømme, Doriana Misceo, Amjad Khan, Eirik Frengen, Muhammad Umair, Bertrand Isidor, Benjamin Cogné, Asma A. Khan, Ange-Line Bruel, Arthur Sorlin, Paul Kuentz, Christine Chiaverini, A. Micheil Innes, Michael Zech, Marek Baláž, Petra Havrankova, Robert Jech, Zubair M. Ahmed, Sheikh Riazuddin, Saima Riazuddin
Commun Biol. 2024; 7: 831. Published online 2024 Jul 8. doi: 10.1038/s42003-024-06466-1
PMCID:
PMC11231287
AbstractArticlePDF–9.5M
8.
A compound heterozygote case of glutaric aciduria type II in a patient carrying a novel candidate variant in ETFDH gene: A case report and literature review on compound heterozygote cases
Mohammad Reza Seyedtaghia, Reza Jafarzadeh‐Esfehani, Seyedmojtaba Hosseini, Sepehr Kobravi, Mahdis Hakkaki, Yalda Nilipour
Mol Genet Genomic Med. 2024 Jul; 12(7): e2489. Published online 2024 Jul 5. doi: 10.1002/mgg3.2489
PMCID:
PMC11225075
AbstractArticlePDF–2.1M
9.
ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations
Lucia Laugwitz, Fubo Cheng, Stephan C Collins, Alexander Hustinx, Nicolas Navarro, Simon Welsch, Helen Cox, Tzung-Chien Hsieh, Aswinkumar Vijayananth, Rebecca Buchert, Benjamin Bender, Stephanie Efthymiou, David Murphy, Faisal Zafar, Nuzhat Rana, Ute Grasshoff, Ruth J Falb, Mona Grimmel, Annette Seibt, Wenxu Zheng, Hamid Ghaedi, Marie Thirion, Sébastien Couette, Reza Azizimalamiri, Saeid Sadeghian, Hamid Galehdari, Mina Zamani, Jawaher Zeighami, Alireza Sedaghat, Samira Molaei Ramshe, Ali Zare, Behnam Alipoor, Dirk Klee, Marc Sturm, Stephan Ossowski, Henry Houlden, Olaf Riess, Dagmar Wieczorek, Ryan Gavin, Reza Maroofian, Peter Krawitz, Binnaz Yalcin, Felix Distelmaier, Tobias B Haack
Brain. 2024 Jul; 147(7): 2471–2482. Published online 2024 Feb 22. doi: 10.1093/brain/awae058
PMCID:
PMC11224597
AbstractArticlePDF–832K
10.
Cloning and functional analysis of the juvenile hormone receptor gene CsMet in Coccinella septempunctata
Ying Cheng, Yuhang Zhou, Cao Li, Jianxue Jin
J Insect Sci. 2024 Jul; 24(4): 2. Published online 2024 Jul 3. doi: 10.1093/jisesa/ieae065
PMCID:
PMC11221319
AbstractArticlePDF–3.2M
11.
Variants in HCFC1 and MN1 genes causing intellectual disability in two Pakistani families
Syeda Iqra Hussain, Nazif Muhammad, Shahbaz Ali Shah, Adil u Rehman, Sher Alam Khan, Shamim Saleha, Yar Muhammad Khan, Noor Muhammad, Saadullah Khan, Naveed Wasif
BMC Med Genomics. 2024; 17: 176. Published online 2024 Jul 2. doi: 10.1186/s12920-024-01943-2
PMCID:
PMC11221130
AbstractArticlePDF–5.5M
12.
Effect of the OPHN1 novel variant c.1025+1 G>A on RNA splicing: insights from a minigene assay
Fei Yang, Minghui Wang
BMC Med Genomics. 2024; 17: 175. Published online 2024 Jul 2. doi: 10.1186/s12920-024-01952-1
PMCID:
PMC11221095
AbstractArticlePDF–1.7M
13.
Novel protein-truncating variants of a chromatin-modifying gene MSL2 in syndromic neurodevelopmental disorders
Xiaona Lu, Kim Ng, Filippo Pinto e Vairo, James Collins, Ronald Cohn, Kacie Riley, Katherine Agre, Ralitza Gavrilova, Eric W. Klee, Jill A. Rosenfeld, Yong-hui Jiang
Eur J Hum Genet. 2024 Jul; 32(7): 879–883. Published online 2024 May 3. doi: 10.1038/s41431-024-01576-0
PMCID:
PMC11219747
AbstractArticlePDF–762K
14.
Arabidopsis ribosomal RNA processing meerling mutants exhibit suspensor-derived polyembryony due to direct reprogramming of the suspensor
Honglei Wang, Luca Santuari, Tristan Wijsman, Guy Wachsman, Hannah Haase, Michael Nodine, Ben Scheres, Renze Heidstra
Plant Cell. 2024 Jul; 36(7): 2550–2569. Published online 2024 Mar 21. doi: 10.1093/plcell/koae087
PMCID:
PMC11218825
AbstractArticlePDF–85M
15.
Syndrome Coffin-Siris et anomalies bucco-dentaires : une nouvelle observation
Afaf Houb-Dine, Hammouti Jalila, Fatima Zaoui, Asmae Benkaddour
Tunis Med. 2023 Apr; 101(4): 456–459. French. Publication en ligne 2023 avr. 5.
PMCID:
PMC11217953
AbstractArticlePDF–546K
16.
Functional mechanism study of the allelochemical myrigalone A identifies a group of ultrapotent inhibitors of ethylene biosynthesis in plants
George Heslop-Harrison, Kazumi Nakabayashi, Ana Espinosa-Ruiz, Francesca Robertson, Robert Baines, Christopher R.L. Thompson, Katrin Hermann, David Alabadí, Gerhard Leubner-Metzger, Robin S.B. Williams
Plant Commun. 2024 Jun 10; 5(6): 100846. Published online 2024 Mar 8. doi: 10.1016/j.xplc.2024.100846
PMCID:
PMC11211550
AbstractArticlePDF–3.9M
17.
Deletion of VPS50 protein in mouse brain impairs synaptic function and behavior
Constanza Ahumada-Marchant, Carlos Ancatén-Gonzalez, Henny Haensgen, Bastian Brauer, Nicolas Merino-Veliz, Rita Droste, Felipe Arancibia, H. Robert Horvitz, Martha Constantine-Paton, Gloria Arriagada, Andrés E. Chávez, Fernando J. Bustos
BMC Biol. 2024; 22: 142. Published online 2024 Jun 26. doi: 10.1186/s12915-024-01940-y
PMCID:
PMC11210182
AbstractArticlePDF–5.5M
18.
Reverse Phenotyping after Whole-Exome Sequencing in Children with Developmental Delay/Intellectual Disability—An Exception or a Necessity?
Nikola Ilic, Nina Maric, Ales Maver, Lluis Armengol, Ruzica Kravljanac, Jana Cirkovic, Jovana Krstic, Danijela Radivojevic, Sanja Cirkovic, Slavica Ostojic, Stasa Krasic, Aleksandra Paripovic, Vladislav Vukomanovic, Borut Peterlin, Gorica Maric, Adrijan Sarajlija
Genes (Basel) 2024 Jun; 15(6): 789. Published online 2024 Jun 15. doi: 10.3390/genes15060789
PMCID:
PMC11203244
AbstractArticlePDF–241K
19.
Optical Genome Mapping Reveals Disruption of the RASGRF2 Gene in a Patient with Developmental Delay Carrying a De Novo Balanced Reciprocal Translocation
Rosa Catalina Lederbogen, Sabine Hoffjan, Charlotte Thiels, Ulrike Angelika Mau-Holzmann, Sylke Singer, Maria Viktorovna Yusenko, Hoa Huu Phuc Nguyen, Wanda Maria Gerding
Genes (Basel) 2024 Jun; 15(6): 809. Published online 2024 Jun 19. doi: 10.3390/genes15060809
PMCID:
PMC11203114
AbstractArticlePDF–745K
20.
An Unclassified Deletion Involving the Proximal Short Arm of Chromosome 10: A New Syndrome?
Graziano Santoro, Mariarosaria Incoronato, Edoardo Spagnoli, Ilaria Gabbiato, Simona Contini, Marta Piovan, Maurizio Ferrari, Cristina Lapucci, Daniela Zuccarello
Genes (Basel) 2024 Jun; 15(6): 650. Published online 2024 May 21. doi: 10.3390/genes15060650
PMCID:
PMC11203018
AbstractArticlePDF–1.5M

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