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Select item 109670011.

A case of mild partial androgen insensitivity syndrome in a juvenile boy

Fen Wang, Shiying Shao, Wentao He, Shuhong Hu

J Int Med Res. 2024 Mar; 52(3): 03000605241232520. Published online 2024 Mar 26. doi: 10.1177/03000605241232520

PMCID:: PMC10967001

Article PDF–389K

Select item 109499672.

Generation of two induced pluripotent stem cell lines from Duchenne muscular dystrophy patients

Wenqiang Liu, Wenshu Zeng, Xiaohui Kong, Min Htet, Rebecca Yu, Matthew Wheeler, John W. Day, Joseph C. Wu

Stem Cell Res. Author manuscript; available in PMC 2024 Mar 19.

Published in final edited form as: Stem Cell Res. 2023 Oct; 72: 103207. Published online 2023 Sep 18. doi: 10.1016/j.scr.2023.103207

PMCID:: PMC10949967

Article PDF–573K

Select item 109304473.

GLA Mutations Suppress Autophagy and Stimulate Lysosome Generation in Fabry Disease

Ping Li, Yuqian Xi, Yanping Zhang, Abdus Samad, Wenli Lan, Ya Wu, Jiayu Zhao, Guangxin Chen, Changxin Wu, Qiuhong Xiong

Cells. 2024 Mar; 13(5): 437. Published online 2024 Mar 1. doi: 10.3390/cells13050437

PMCID:: PMC10930447

Article PDF–8.6M

Select item 109302924.

ANOS1 variants in a large cohort of Chinese patients with congenital hypogonadotropic hypogonadism

ZENG Wang, LI Jiada, WANG Xinying, JIANG Fang, MEN Meichao

Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2022 Jul 28; 47(7): 847–857. doi: 10.11817/j.issn.1672-7347.2022.220071

PMCID:: PMC10930292

Article PDF–1.0M

Select item 109174945.

Drosophila models of phosphatidylinositol glycan biosynthesis class A congenital disorder of glycosylation (PIGA-CDG) mirror patient phenotypes

Holly J Thorpe, Katie G Owings, Miriam C Aziz, Madelyn Haller, Emily Coelho, Clement Y Chow

G3 (Bethesda) 2024 Mar; 14(3): jkad291. Published online 2023 Dec 20. doi: 10.1093/g3journal/jkad291

PMCID:: PMC10917494

Article PDF–3.6M

Select item 108432456.

Preimplantation genetic testing for X-linked chronic granulomatous disease induced by a CYBB gene variant: A case report

Xinlian Chen, Cuiting Peng, Han Chen, Fan Zhou, Yuezhi Keqie, Yutong Li, Shanling Liu, Jun Ren

Medicine (Baltimore) 2024 Feb 2; 103(5): e37198. Published online 2023 Feb 2. doi: 10.1097/MD.0000000000037198

PMCID:: PMC10843245

Article PDF–977K

Select item 108293747.

The effectiveness of expanded carrier screening based on next-generation sequencing for severe monogenic genetic diseases

Xue Zhang, Qian Chen, Junnan Li, Xin Luo, Jianyun Luo, Jian Li, Ziye Zeng, Yan Wu, Hua Zhang, Yanling Dong

Hum Genomics. 2024; 18: 9. Published online 2024 Jan 31. doi: 10.1186/s40246-024-00577-w

PMCID:: PMC10829374

Article PDF–737K

Select item 108170518.

Missing Heritability in Albinism: Deep Characterization of a Hungarian Albinism Cohort Raises the Possibility of the Digenic Genetic Background of the Disease

Nikoletta Nagy, Margit Pal, Jozsef Kun, Bence Galik, Peter Urban, Marta Medvecz, Beata Fabos, Alexandra Neller, Aliasgari Abdolreza, Judit Danis, Viktoria Szabo, Zhuo Yang, Stefanie Fenske, Martin Biel, Attila Gyenesei, Eva Adam, Marta Szell

Int J Mol Sci. 2024 Jan; 25(2): 1271. Published online 2024 Jan 20. doi: 10.3390/ijms25021271

PMCID:: PMC10817051

Article PDF–1.6M

Select item 108156849.

A Missense Mutation in the Collagen Triple Helix of EDA Is Associated with X-Linked Recessive Hypohidrotic Ectodermal Dysplasia in Fleckvieh Cattle

Sina Reinartz, Christine Weiß, Maike Heppelmann, Marion Hewicker-Trautwein, Maren Hellige, Laure Willen, Karsten Feige, Pascal Schneider, Ottmar Distl

Genes (Basel) 2024 Jan; 15(1): 8. Published online 2023 Dec 20. doi: 10.3390/genes15010008

PMCID:: PMC10815684

Article PDF–3.1M

Select item 1081481410.

Nonsynonymous Mutations in Intellectual Disability and Autism Spectrum Disorder Gene PTCHD1 Disrupt N-Glycosylation and Reduce Protein Stability

Connie T. Y. Xie, Stephen F. Pastore, John B. Vincent, Paul W. Frankland, Paul A. Hamel

Cells. 2024 Jan; 13(2): 199. Published online 2024 Jan 21. doi: 10.3390/cells13020199

PMCID:: PMC10814814

Article PDF–3.8M

Select item 1080004811.

Novel ABCD1 variant causes phenotype of adrenomyeloneuropathy with cerebral involvement in Ukrainian siblings: first adult hematopoietic stem cell transplantation for ALD in Ukraine: a case report

Khrystyna Shchubelka, Olga Herasymenko, Andrii Budzyn, Oleksandr Lysytsia, Anastasiia Rusyn, Olga Oleksyk, Svitlana Tynta, Taras Oleksyk

J Med Case Rep. 2024; 18: 25. Published online 2024 Jan 21. doi: 10.1186/s13256-023-04321-1

PMCID:: PMC10800048

Article PDF–1.4M

Select item 1080002312.

Comparison of pharmaceutical properties and biological activities of prednisolone, deflazacort, and vamorolone in DMD disease models

Grace Liu, Philip Lipari, Anna Mollin, Stephen Jung, Irina Teplova, Wencheng Li, Lanqing Ying, Vijay More, William Lennox, Shirley Yeh, Eric McGann, Young-Choon Moon, Cari Rice, Eduardo Huarte, Barbara Gruszka, Balmiki Ray, Elizabeth Goodwin, Patricia Buckendahl, Edward Yurkow, Bruce Braughton, Jana Narasimhan, Ellen Welch, Gregory Voronin, Marla Weetall

Hum Mol Genet. 2024 Feb 1; 33(3): 211–223. Published online 2023 Oct 11. doi: 10.1093/hmg/ddad173

PMCID:: PMC10800023

Article PDF–1.3M

Select item 1076768313.

Novel mutation in the NDP gene associated with Norrie disease in a Chinese pedigree

Keke Jiang, Shuying Wang, Huixin Sun, Chuanzhi Peng, Nan Li, Shuchan Li, Rongyu Gao, Jie Zhang

Mol Genet Genomic Med. 2024 Jan; 12(1): e2345. Published online 2023 Dec 26. doi: 10.1002/mgg3.2345

PMCID:: PMC10767683

Article PDF–2.6M

Select item 1076292414.

Carrier frequency estimation of pathogenic variants of autosomal recessive and X-linked recessive mendelian disorders using exome sequencing data in 1,642 Thais

Wanna Chetruengchai, Prasit Phowthongkum, Vorasuk Shotelersuk

BMC Med Genomics. 2024; 17: 9. Published online 2024 Jan 2. doi: 10.1186/s12920-023-01771-w

PMCID:: PMC10762924

Article PDF–1002K

Select item 1073378815.

Progression of liver disease and portal hypertension in dyskeratosis congenita and related telomere biology disorders

Anusha Vittal, Marena R. Niewisch, Sonia Bhala, Pujitha Kudaravalli, Farial Rahman, Julian Hercun, David E. Kleiner, Sharon A. Savage, Christopher Koh, Theo Heller, Neelam Giri

Hepatology. Author manuscript; available in PMC 2023 Dec 21.

Published in final edited form as: Hepatology. 2023 Dec 1; 78(6): 1777–1787. Published online 2023 May 16. doi: 10.1097/HEP.0000000000000461

PMCID:: PMC10733788

Article PDF–786K

Select item 1071511216.

A Novel Arg120Pro Mutation in the RP2 Gene in an Iranian Family with X-linked Retinitis Pigmentosa: A Case Report

Nasrin Mansouri, Parichehr Darabi, Masoumeh Favaedi, Hanieh Faizmahdavi, Soheila Nankali, Marjan Assefi, Alireza Sharafshah, Vahid Omarmeli

Iran J Med Sci. 2023 Nov; 48(6): 606–611. Published online 2023 Nov 1. doi: 10.30476/IJMS.2022.96392.2792

PMCID:: PMC10715112

Article PDF–1.5M

Select item 1070504017.

Generation and characterization of an immunodeficient mouse model of mucopolysaccharidosis type II

Miles C Smith, Lalitha R Belur, Andrea D Karlen, Kelly Podetz-Pedersen, Olivia Erlanson, Kanut Laoharawee, Justin Furcich, Troy C. Lund, Yun You, Davis Seelig, Beau R. Webber, R. Scott McIvor

Mol Genet Metab. Author manuscript; available in PMC 2023 Dec 8.

Published in final edited form as: Mol Genet Metab. 2023 Apr; 138(4): 107539. Published online 2023 Feb 10. doi: 10.1016/j.ymgme.2023.107539

PMCID:: PMC10705040

Article PDF–880K

Select item 1068330618.

Application of patient-derived induced pluripotent stem cells and organoids in inherited retinal diseases

Yuqin Liang, Xihao Sun, Chunwen Duan, Shibo Tang, Jiansu Chen

Stem Cell Res Ther. 2023; 14: 340. Published online 2023 Nov 27. doi: 10.1186/s13287-023-03564-5

PMCID:: PMC10683306

Article PDF–1.4M

Select item 1065792619.

Preliminary Results of a Genetic Study of Children with Duchenne Myodystrophy in Aktobe, Kazakhstan

Umurzakova A, Ayaganov D, Mannapova A, Dzhumasheva B, Dzhaksybayeva A

Arch Razi Inst. 2023 Jun; 78(3): 949–954. Published online 2023 Jun 30. doi: 10.22092/ARI.2022.360050.2534

PMCID:: PMC10657926

Article PDF–484K

Select item 1065684120.

Hemophilia A and factor V deficiency in a girl with Turner syndrome: a case report

Rawan Al khudari, Duaa Batesh, Roaa Habash, Othman Hamdn

J Med Case Rep. 2023; 17: 480. Published online 2023 Nov 18. doi: 10.1186/s13256-023-04215-2

PMCID:: PMC10656841

Article PDF–858K

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