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Select item 106819551.

Autosomal Recessive Adolescent Syndromic Nephronophthisis Caused by a Novel Compound Heterozygous Pathogenic Variant

Oyintayo Ajiboye, Jaime E. Vengoechea, Ritu Gupta, Koba Lomashvili

Am J Case Rep. 2023; 24: e941413-1–e941413-5. Published online 2023 Nov 22. doi: 10.12659/AJCR.941413

PMCID:: PMC10681955

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Select item 106817972.

Compound-heterozygous GRIN2A null variants associated with severe developmental and epileptic encephalopathy

Vincent Strehlow, Claudine Rieubland, Sabrina Gallati, Sukhan Kim, Scott J. Myers, Vincent Peterson, Amy J. Ramsey, Daniel D. Teuscher, Stephen F. Traynelis, Johannes R. Lemke

Epilepsia. Author manuscript; available in PMC 2023 Nov 27.

Published in final edited form as: Epilepsia. 2022 Oct; 63(10): e132–e137. Published online 2022 Aug 30. doi: 10.1111/epi.17394

PMCID:: PMC10681797

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Select item 106729593.

MARS1基因变异所致间质性肺病及肝病1例

彭文静, 朱燕, 王来栓, 陆炜, 杨琳, 朱丽

Zhongguo Dang Dai Er Ke Za Zhi. 2023 Nov 15; 25(11): 1186–1190. Chinese. doi: 10.7499/j.issn.1008-8830.2307050

PMCID:: PMC10672959

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Select item 106555104.

Next‐generation sequencing through multi‐gene panel testing for the diagnosis of a Chinese patient with atypical Cockayne syndrome

Xinyi Wang, Yue Li, Anqi Zhao, Yumeng Wang, Qiaoyu Cao, Chaolan Pan, Ming Li

Mol Genet Genomic Med. 2023 Nov; 11(11): e2254. Published online 2023 Aug 17. doi: 10.1002/mgg3.2254

PMCID:: PMC10655510

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Select item 106555075.

Novel KCNJ16 variants identified in a Chinese patient with hypokalemic metabolic acidosis

Jianxiong Chen, Youqing Fu, Yan Sun, Xinlong Zhou, Qingming Wang, Cong Li, Haiming Yuan

Mol Genet Genomic Med. 2023 Nov; 11(11): e2238. Published online 2023 Jul 19. doi: 10.1002/mgg3.2238

PMCID:: PMC10655507

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Select item 106444936.

The impact of SARS-CoV-2 infection in patients with cystic fibrosis undergoing CFTR channel modulators treatment: a literature review

Antonio Vitiello, Michela Sabbatucci, Andrea Silenzi, Annalisa Capuano, Francesco Rossi, Andrea Zovi, Francesco Blasi, Giovanni Rezza

Respir Res. 2023; 24: 278. Published online 2023 Nov 13. doi: 10.1186/s12931-023-02593-1

PMCID:: PMC10644493

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Select item 106323357.

Canavan’s spongiform leukodystrophy (Aspartoacylase deficiency) with emphasis on sonographic features in infancy: description of a case report and review of the literature

Leon Rossler, Stefan Lemburg, Almut Weitkämper, Charlotte Thiels, Sabine Hoffjan, Huu Phuc Nguyen, Thomas Lücke, Christoph M. Heyer

J Ultrasound. 2023 Dec; 26(4): 757–764. Published online 2022 Feb 20. doi: 10.1007/s40477-022-00667-2

PMCID:: PMC10632335

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Select item 106279178.

A nonsense mutation in mouse Adamtsl2 causes uterine hypoplasia and an irregular estrous cycle

Yuka Iwanaga, Kaori Tsuji, Ayaka Nishimura, Kouji Tateishi, Misa Kakiuchi, Takehito Tsuji

Mamm Genome. 2023; 34(4): 559–571. Published online 2023 Sep 1. doi: 10.1007/s00335-023-10016-1

PMCID:: PMC10627917

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Select item 106197269.

Case Report: Osteosclerotic metaphyseal dysplasia with optic nerve involvement and progressive osteonecrosis of the jaw due to a novel LRRK1 mutation

Chariklia Pieridou, Ataf Sabir, Jonathan Lancashire, Yifan Liang, Kevin McMillan, Nick Shaw, Suma Uday

Front Endocrinol (Lausanne) 2023; 14: 1258340. Published online 2023 Oct 18. doi: 10.3389/fendo.2023.1258340

PMCID:: PMC10619726

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Select item 1061076210.

The genetic spectrum of polycystic kidney disease in children

Ayca Kocaaga, Yesim Özdemir Atikel, Mehtap Sak, Taner Karakaya

Rev Assoc Med Bras (1992) 2023; 69(11): e20230334. Published online 2023 Oct 27. doi: 10.1590/1806-9282.20230334

PMCID:: PMC10610762

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Select item 1060677011.

Genome Sequencing of Consanguineous Family Implicates Ubiquitin-Specific Protease 53 (USP53) Variant in Psychosis/Schizophrenia: Wild-Type Expression in Murine Hippocampal CA 1–3 and Granular Dentate with AMPA Synapse Interactions

Ambreen Kanwal, Sohail A. Sheikh, Faiza Aslam, Samina Yaseen, Zachary Beetham, Nathan Pankratz, Connie R. Clabots, Sadaf Naz, José V. Pardo

Genes (Basel) 2023 Oct; 14(10): 1921. Published online 2023 Oct 9. doi: 10.3390/genes14101921

PMCID:: PMC10606770

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Select item 1057937312.

Fibrocystin/Polyductin releases a C-terminal fragment that translocates into mitochondria and suppresses cystogenesis

Rebecca V Walker, Qin Yao, Hangxue Xu, Anthony Maranto, Kristen F Swaney, Sreekumar Ramachandran, Rong Li, Laura Cassina, Brian M Polster, Patricia Outeda, Alessandra Boletta, Terry Watnick, Feng Qian

Nat Commun. 2023; 14: 6513. Published online 2023 Oct 16. doi: 10.1038/s41467-023-42196-4

PMCID:: PMC10579373

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Select item 1057221913.

Unusual Trisomy X Phenotype Associated with a Concurrent Heterozygous 16p11.2 Deletion: Importance of an Integral Approach for Proper Diagnosis

Ariadna González-del Angel, Miguel Angel Alcántara-Ortigoza, Sandra Ramos, Carolina Algara-Ramírez, Marco Antonio Hernández-Hernández, Lorenza Saenger-Rivas

Int J Mol Sci. 2023 Oct; 24(19): 14643. Published online 2023 Sep 27. doi: 10.3390/ijms241914643

PMCID:: PMC10572219

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Select item 1056187114.

Constructing and interpreting a large-scale variant effect map for an ultrarare disease gene: Comprehensive prediction of the functional impact of PSAT1 genotypes

Michael J. Xie, Gareth A. Cromie, Katherine Owens, Martin S. Timour, Michelle Tang, J. Nathan Kutz, Ayman W. El-Hattab, Richard N. McLaughlin, Jr., Aimée M. Dudley

PLoS Genet. 2023 Oct; 19(10): e1010972. Published online 2023 Oct 9. doi: 10.1371/journal.pgen.1010972

PMCID:: PMC10561871

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Select item 1054866615.

Structural and functional implications of SLC13A3 and SLC9A6 mutations: an in silico approach to understanding intellectual disability

Syeda Iqra Hussain, Nazif Muhammad, Salah Ud Din Shah, Fardous Fardous, Sher Alam Khan, Niamatullah Khan, Adil U Rehman, Mehwish Siddique, Shoukat Ali Wasan, Rooh Niaz, Hafiz Ullah, Niamat Khan, Noor Muhammad, Muhammad Usman Mirza, Naveed Wasif, Saadullah Khan

BMC Neurol. 2023; 23: 353. Published online 2023 Oct 4. doi: 10.1186/s12883-023-03397-y

PMCID:: PMC10548666

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Select item 1054756316.

Case Report: Characterization of known (c.607G>C) and novel (c.416C>G) ELANE mutations in two Mexican families with congenital neutropenia

María Enriqueta Núñez-Núñez, Juan Carlos Lona-Reyes, Brenda López-Barragán, Rosa Margarita Cruz-Osorio, Bricia Melissa Gutiérrez-Zepeda, Antonio Quintero-Ramos, Denisse Stephania Becerra-Loaiza

Front Immunol. 2023; 14: 1194262. Published online 2023 Sep 18. doi: 10.3389/fimmu.2023.1194262

PMCID:: PMC10547563

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Select item 1053021417.

Genetic Modifiers of Mendelian Monogenic Collagen IV Nephropathies in Humans and Mice

Constantinos Deltas, Gregory Papagregoriou, Stavroula F. Louka, Apostolos Malatras, Frances Flinter, Daniel P. Gale, Susie Gear, Oliver Gross, Julia Hoefele, Rachel Lennon, Jeffrey H. Miner, Alessandra Renieri, Judy Savige, A. Neil Turner

Genes (Basel) 2023 Sep; 14(9): 1686. Published online 2023 Aug 25. doi: 10.3390/genes14091686

PMCID:: PMC10530214

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Select item 1052693218.

A Comprehensive Update on Late-Onset Pompe Disease

Beatrice Labella, Stefano Cotti Piccinelli, Barbara Risi, Filomena Caria, Simona Damioli, Enrica Bertella, Loris Poli, Alessandro Padovani, Massimiliano Filosto

Biomolecules. 2023 Sep; 13(9): 1279. Published online 2023 Aug 22. doi: 10.3390/biom13091279