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Select item 83572791.

Peptides Affecting the Outer Membrane Lipid Asymmetry System (MlaA-OmpC/F) Reduce Avian Pathogenic Escherichia coli (APEC) Colonization in Chickens

Dipak Kathayat, Gary Closs, Jr., Yosra A. Helmy, Dhanashree Lokesh, Sochina Ranjit, Gireesh Rajashekara

Appl Environ Microbiol. 2021 Sep; 87(17): e00567-21. Prepublished online 2021 Jun 16. Published online 2021 Aug 11. doi: 10.1128/AEM.00567-21

PMCID:: PMC8357279

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Select item 62619302.

A comparison of biological activity of commercially available purified native botulinum neurotoxin serotypes A1 to F1 in vitro, ex vivo, and in vivo

Sarah Donald, Mark Elliott, Bryony Gray, Fraser Hornby, Agnieszka Lewandowska, Sandra Marlin, Christine Favre‐Guilmard, Cindy Périer, Sylvie Cornet, Mikhail Kalinichev, Johannes Krupp, Elena Fonfria

Pharmacol Res Perspect. 2018 Dec; 6(6): e00446. Published online 2018 Nov 22. doi: 10.1002/prp2.446

PMCID:: PMC6261930

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Select item 32373543.

Isothiocyanates Reduce Mercury Accumulation via an Nrf2-Dependent Mechanism during Exposure of Mice to Methylmercury

Takashi Toyama, Yasuhiro Shinkai, Akira Yasutake, Koji Uchida, Masayuki Yamamoto, Yoshito Kumagai

Environ Health Perspect. 2011 Aug; 119(8): 1117–1122. Published online 2011 Mar 7. doi: 10.1289/ehp.1003123

PMCID:: PMC3237354

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Select item 106622474.

Arrhythmias in patients with X-linked myotubular myopathy

Marina Pons-Espinal, Jordi Clotet-Caba, Sergi Cesar-Díaz, Delia Yubero-Siles

Rev Neurol. 2023; 77(3): 79–81. Published online 2023 Aug 1. doi: 10.33588/rn.7703.2022222

PMCID:: PMC10662247

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Select item 106555045.

Identification of a de novo variant in the ASXL2 gene related to Shashi‐Pena syndrome

Yanyan Zheng, Le Yang, Mengmeng Niu, Siyu Zhao, Lili Liang, Yan Wu, Taoli Li, Fan Yang, Zuozhen Yang, Yan Wang, Dong Wang

Mol Genet Genomic Med. 2023 Nov; 11(11): e2251. Published online 2023 Jul 26. doi: 10.1002/mgg3.2251

PMCID:: PMC10655504

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Select item 106237926.

Neurovascular unit disruption and blood–brain barrier leakage in MCT8 deficiency

Marina Guillén-Yunta, Víctor Valcárcel-Hernández, Ángel García-Aldea, Guadalupe Soria, José Manuel García-Verdugo, Ana Montero-Pedrazuela, Ana Guadaño-Ferraz

Fluids Barriers CNS. 2023; 20: 79. Published online 2023 Nov 3. doi: 10.1186/s12987-023-00481-w

PMCID:: PMC10623792

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Select item 106061107.

Identification of a Novel FOXP1 Variant in a Patient with Hypotonia, Intellectual Disability, and Severe Speech Impairment

Mario Benvenuto, Pietro Palumbo, Ester Di Muro, Concetta Simona Perrotta, Tommaso Mazza, Giuseppa Maria Luana Mandarà, Orazio Palumbo, Massimo Carella

Genes (Basel) 2023 Oct; 14(10): 1958. Published online 2023 Oct 18. doi: 10.3390/genes14101958

PMCID:: PMC10606110

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Select item 105912578.

The Diverse Genetic Landscape of Neurodevelopmental Disorders

Wen F. Hu, Maria H. Chahrour, Christopher A. Walsh

Annu Rev Genomics Hum Genet. Author manuscript; available in PMC 2023 Oct 23.

Published in final edited form as: Annu Rev Genomics Hum Genet. 2014; 15: 195–213. doi: 10.1146/annurev-genom-090413-025600

PMCID:: PMC10591257

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Select item 105633089.

Tourette-like syndrome secondary to Kleefstra syndrome 1 with a de novo microdeletion in the EHMT1 gene

Mengyue Niu, Yanjing Li, Shikun Zhan, Bomin Sun, Jun Liu, Yiwen Wu

BMC Neurol. 2023; 23: 365. Published online 2023 Oct 10. doi: 10.1186/s12883-023-03417-x

PMCID:: PMC10563308

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Select item 1040817110.

Ovarian cyst torsion in Prader-Willi Syndrome

Ji-cun Zhao, Heng Huang, Hong-lei Gong, Qing-kai Zhao, He Wu

BMC Pediatr. 2023; 23: 391. Published online 2023 Aug 8. doi: 10.1186/s12887-023-04223-7

PMCID:: PMC10408171

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Select item 1040387211.

Genotype, phenotype and treatment outcomes of 17 Malaysian patients with infantile-onset Pompe disease and the identification of 3 novel GAA variants

Mei-Yan Chan, Julaina Abdul Jalil, Yusnita Yakob, Siti Aishah Abdul Wahab, Ernie Zuraida Ali, Mohd Khairul Nizam Mohd Khalid, Huey-Yin Leong, Hui-Bein Chew, Jeya Bawani Sivabalakrishnan, Lock-Hock Ngu

Orphanet J Rare Dis. 2023; 18: 231. Published online 2023 Aug 4. doi: 10.1186/s13023-023-02848-6

PMCID:: PMC10403872

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Select item 1037996812.

A Novel Homozygous GPAA1 Variant in a Patient with a Glycosylphosphatidylinositol Biosynthesis Defect

Paolo Fontana, Alberto Budillon, Domenico Simeone, Francesca Del Vecchio Blanco, Martina Caiazza, Alessandra D’Amico, Fortunato Lonardo, Vincenzo Nigro, Giuseppe Limongelli, Gioacchino Scarano

Genes (Basel) 2023 Jul; 14(7): 1444. Published online 2023 Jul 14. doi: 10.3390/genes14071444

PMCID:: PMC10379968

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Select item 1036002413.

Case Report: Prenatal neurological injury in a neonate with pyruvate carboxylase deficiency type B

Mei Xue

Front Endocrinol (Lausanne) 2023; 14: 1199590. Published online 2023 Jul 7. doi: 10.3389/fendo.2023.1199590

PMCID:: PMC10360024

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Select item 1033728414.

Genetic analysis of periventricular nodular heterotopia 7 caused by a novel NEDD4L missense mutation: Case and literature summary

Juan Liu, Jihong Hu, Yaqing Duan, Rong Qin, Chunguang Guo, Hongtao Zhou, Hua Liu, Chunlei Liu

Mol Genet Genomic Med. 2023 Jul; 11(7): e2169. Published online 2023 Mar 19. doi: 10.1002/mgg3.2169

PMCID:: PMC10337284

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Select item 1029783215.

Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature

Alejandro Parra, Rachel Rabin, John Pappas, Patricia Pascual, Mario Cazalla, Pedro Arias, Natalia Gallego-Zazo, Alfredo Santana, Ignacio Arroyo, Mercè Artigas, Harry Pachajoa, Yasemin Alanay, Ozlem Akgun-Dogan, Lyse Ruaud, Nathalie Couque, Jonathan Levy, Gloria Liliana Porras-Hurtado, Fernando Santos-Simarro, Maria Juliana Ballesta-Martinez, Encarna Guillén-Navarro, Hugo Muñoz-Hernández, Julián Nevado, Spanish OverGrowth Registry Initiative, Jair Tenorio-Castano, Pablo Lapunzina

Genes (Basel) 2023 Jun; 14(6): 1179. Published online 2023 May 29. doi: 10.3390/genes14061179

PMCID:: PMC10297832

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Select item 1025880716.

Further delineation of a recognizable type of syndromic short stature caused by biallelic SEMA3A loss-of-function variants

Alexander F. Gileta, Maria L. Helgeson, Jacqueline M. M. Leonard, Louise C. Pyle, Hari P. Subramanian, Kelly Arndt, Colin P. Hawkes, Daniela del Gaudio

Am J Med Genet A. Author manuscript; available in PMC 2023 Jun 12.

Published in final edited form as: Am J Med Genet A. 2021 Mar; 185(3): 889–893. Published online 2020 Dec 23. doi: 10.1002/ajmg.a.62023

PMCID:: PMC10258807

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Select item 1025755917.

De Novo GLI3 Pathogenic Variants May Cause Hypotonia and a Range of Brain Malformations Without Skeletal Abnormalities

Lyna Siafa, Emanuela Argilli, Elliott H. Sherr, Kenneth A. Myers

Pediatr Neurol. Author manuscript; available in PMC 2023 Jun 11.

Published in final edited form as: Pediatr Neurol. 2022 Jun; 131: 1–3. Published online 2022 Mar 31. doi: 10.1016/j.pediatrneurol.2022.03.005

PMCID:: PMC10257559

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Select item 1024720418.

儿童Joubert综合征临床及遗传学分析

张广宇, 赵云霞, 赵会玲, 唐国皓, 王鹏亮, 朱登纳

Zhongguo Dang Dai Er Ke Za Zhi. 2023 May 15; 25(5): 497–501. Chinese. doi: 10.7499/j.issn.1008-8830.2212069

PMCID:: PMC10247204

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Select item 1024421819.

Connective tissue presentation in two families expands the phenotypic spectrum of PYROXD1 disorders

Frances J Evesson, Gregory Dziaduch, Samantha J Bryen, Francesca Moore, Sara Pittman, Beena Devanapalli, Leigh B Waddell, Monique M Ryan, Manoj P Menezes, Conrad C Weihl, Adviye Ayper Tolun, Craig Zaidman, Helen Young, Lesley C Adès, Sandra T Cooper

Hum Mol Genet. 2023 Jun 15; 32(12): 2084–2092. Published online 2023 Mar 15. doi: 10.1093/hmg/ddad035

PMCID:: PMC10244218

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Select item 1019403120.

In a zebrafish biomedical model of human Allan-Herndon-Dudley syndrome impaired MTH signaling leads to decreased neural cell diversity

Nádia Silva, Marco António Campinho

Front Endocrinol (Lausanne) 2023; 14: 1157685. Published online 2023 May 4. doi: 10.3389/fendo.2023.1157685

Correction in:: Front Endocrinol (Lausanne). 2023; 14: 1228183.

PMCID:: PMC10194031

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