PMC Articles for MedGen (Select 816430) - PMC

Andrew L.H. Webster, Mathijs A. Sanders, Krupa Patel, Ralf Dietrich, Raymond J. Noonan, Francis P. Lach, Ryan R. White, Audrey Goldfarb, Kevin Hadi, Matthew M. Edwards, Frank X. Donovan, Remco M. Hoogenboezem, Moonjung Jung, Sunandini Sridhar, Tom F. Wiley, Olivier Fedrigo, Huasong Tian, Joel Rosiene, Thomas Heineman, Jennifer A. Kennedy, Lorenzo Bean, Rasim O. Rosti, Rebecca Tryon, Ashlyn-Maree Gonzalez, Allana Rosenberg, Ji-Dung Luo, Thomas Carrol, Sanjana Shroff, Michael Beaumont, Eunike Velleuer, Jeff C. Rastatter, Susanne I. Wells, Jordi Surrallés, Grover Bagby, Margaret L. MacMillan, John E. Wagner, Maria Cancio, Farid Boulad, Theresa Scognamiglio, Roger Vaughan, Kristin G. Beaumont, Amnon Koren, Marcin Imielinski, Settara C. Chandrasekharappa, Arleen D. Auerbach, Bhuvanesh Singh, David I. Kutler, Peter J. Campbell, Agata Smogorzewska

Nature. Author manuscript; available in PMC 2023 May 22.

Published in final edited form as: Nature. 2022 Dec; 612(7940): 495–502. Published online 2022 Nov 30. doi: 10.1038/s41586-022-05253-4

PMCID:: PMC10202100

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Select item 96315524.

Metformin for treatment of cytopenias in children and young adults with Fanconi anemia

Jessica A. Pollard, Elissa Furutani, Shanshan Liu, Erica Esrick, Laurie E. Cohen, Jacob Bledsoe, Chih-Wei Liu, Kun Lu, Maria Jose Ramirez de Haro, Jordi Surrallés, Maggie Malsch, Ashley Kuniholm, Ashley Galvin, Myriam Armant, Annette S. Kim, Kaitlyn Ballotti, Lisa Moreau, Yu Zhou, Daria Babushok, Farid Boulad, Clint Carroll, Helge Hartung, Amy Hont, Taizo Nakano, Tim Olson, Sei-Gyung Sze, Alexis A. Thompson, Marcin W. Wlodarski, Xuesong Gu, Towia A. Libermann, Alan D’Andrea, Markus Grompe, Edie Weller, Akiko Shimamura

Blood Adv. 2022 Jun 28; 6(12): 3803–3811. Published online 2022 Jun 27. doi: 10.1182/bloodadvances.2021006490

PMCID:: PMC9631552

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Select item 93954595.

Rickets guidance: part II—management

Dieter Haffner, Maren Leifheit-Nestler, Andrea Grund, Dirk Schnabel

Pediatr Nephrol. 2022; 37(10): 2289–2302. Published online 2022 Mar 29. doi: 10.1007/s00467-022-05505-5

PMCID:: PMC9395459

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Select item 92954926.

Next-generation sequencing reveals novel variants and large deletion in FANCA gene in Polish family with Fanconi anemia

Anna Repczynska, Katarzyna Julga, Jolanta Skalska-Sadowska, Magdalena M. Kacprzak, Alicja Bartoszewska-Kubiak, Ewelina Lazarczyk, Damian Loska, Malgorzata Drozniewska, Kamila Czerska, Jacek Wachowiak, Olga Haus

Orphanet J Rare Dis. 2022; 17: 282. Published online 2022 Jul 19. doi: 10.1186/s13023-022-02424-4

PMCID:: PMC9295492

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Select item 91772407.

Prevalence of (Epi)genetic Predisposing Factors in a 5-Year Unselected National Wilms Tumor Cohort: A Comprehensive Clinical and Genomic Characterization

Janna A. Hol, Roland P. Kuiper, Freerk van Dijk, Esmé Waanders, Sophie E. van Peer, Marco J. Koudijs, Reno Bladergroen, Simon V. van Reijmersdal, Lionel M. Morgado, Jet Bliek, Maria Paola Lombardi, Saskia Hopman, Jarno Drost, Ronald R. de Krijger, Marry M. van den Heuvel-Eibrink, Marjolijn C.J. Jongmans

J Clin Oncol. 2022 Jun 10; 40(17): 1892–1902. Published online 2022 Mar 1. doi: 10.1200/JCO.21.02510

PMCID:: PMC9177240

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Select item 89453108.

LNK (SH2B3) inhibition expands healthy and Fanconi anemia human hematopoietic stem and progenitor cells

Nicholas Holdreith, Grace Lee, Vemika Chandra, Carlo Salas Salinas, Peter Nicholas, Timothy S. Olson, Wei Tong

Blood Adv. 2022 Feb 8; 6(3): 731–745. Published online 2022 Jan 27. doi: 10.1182/bloodadvances.2021004205

PMCID:: PMC8945310

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Select item 86220889.

Evidence for a Genotype–Phenotype Correlation in Patients with Pathogenic GLUT2 (SLC2A2) Variants

Sarah C. Grünert, Anke Schumann, Federico Baronio, Konstantinos Tsiakas, Simona Murko, Ute Spiekerkoetter, René Santer

Genes (Basel) 2021 Nov; 12(11): 1785. Published online 2021 Nov 10. doi: 10.3390/genes12111785

PMCID:: PMC8622088

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Select item 856624410.

Replication protein A large subunit (RPA1a) limits chiasma formation during rice meiosis

Yongjie Miao, Wenqing Shi, Hongjun Wang, Zhihui Xue, Hanli You, Fanfan Zhang, Guijie Du, Ding Tang, Yafei Li, Yi Shen, Zhukuan Cheng

Plant Physiol. 2021 Nov; 187(3): 1605–1618. Published online 2021 Aug 7. doi: 10.1093/plphys/kiab365

PMCID:: PMC8566244

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Select item 832280211.

Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy

Hui Hui Wong, Sze Hwee Seet, Michael Maier, Ayse Gurel, Ricardo Moreno Traspas, Cheryl Lee, Shan Zhang, Beril Talim, Abigail Y.T. Loh, Crystal Y. Chia, Tze Shin Teoh, Danielle Sng, Jarred Rensvold, Sule Unal, Evgenia Shishkova, Ece Cepni, Fatima M. Nathan, Fernanda L. Sirota, Chao Liang, Nese Yarali, Pelin O. Simsek-Kiper, Tadahiro Mitani, Serdar Ceylaner, Ozlem Arman-Bilir, Hamdi Mbarek, Fatma Gumruk, Stephanie Efthymiou, Deniz Uğurlu Çi̇men, Danai Georgiadou, Kortessa Sotiropoulou, Henry Houlden, Franziska Paul, Davut Pehlivan, Candice Lainé, Guoliang Chai, Nur Ain Ali, Siew Chin Choo, Soh Sok Keng, Bertrand Boisson, Elanur Yılmaz, Shifeng Xue, Joshua J. Coon, Thanh Thao Nguyen Ly, Naser Gilani, Dana Hasbini, Hulya Kayserili, Maha S. Zaki, Robert J. Isfort, Natalia Ordonez, Kornelia Tripolszki, Peter Bauer, Nima Rezaei, Simin Seyedpour, Ghamar Taj Khotaei, Charles C. Bascom, Reza Maroofian, Myriam Chaabouni, Afaf Alsubhi, Wafaa Eyaid, Sedat Işıkay, Joseph G. Gleeson, James R. Lupski, Jean-Laurent Casanova, David J. Pagliarini, Nurten A. Akarsu, Sebastian Maurer-Stroh, Arda Cetinkaya, Aida Bertoli-Avella, Ajay S. Mathuru, Lena Ho, Frederic A. Bard, Bruno Reversade

Am J Hum Genet. 2021 Jul 1; 108(7): 1301–1317. Published online 2021 May 25. doi: 10.1016/j.ajhg.2021.05.003

Correction in:: Am J Hum Genet. 2021 Jul 1; 108(7): 1356.

PMCID:: PMC8322802

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Select item 828626412.

Clinical exome sequencing data reveals high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH

Tiana M. Scott, Ian M. Campbell, Andres Hernandez-Garcia, Seema R. Lalani, Pengfei Liu, Chad A. Shaw, Jill A. Rosenfeld, Daryl A. Scott

J Med Genet. Author manuscript; available in PMC 2023 Mar 1.

Published in final edited form as: J Med Genet. 2022 Mar; 59(3): 270–278. Published online 2021 Jan 18. doi: 10.1136/jmedgenet-2020-107317

PMCID:: PMC8286264

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Select item 825384513.

Identification of new GLUT2-selective inhibitors through in silico ligand screening and validation in eukaryotic expression systems

Sina Schmidl, Oleg Ursu, Cristina V. Iancu, Mislav Oreb, Tudor I. Oprea, Jun-yong Choe

Sci Rep. 2021; 11: 13751. Published online 2021 Jul 2. doi: 10.1038/s41598-021-93063-5

PMCID:: PMC8253845

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Select item 825193214.

Microdeletion of 9q22.3: A patient with minimal deletion size associated with a severe phenotype

Adam D. Ewing, Seth W. Cheetham, James J. McGill, Michael Sharkey, Rick Walker, Jennifer A. West, Malcolm J. West, Kim M. Summers

Am J Med Genet A. 2021 Jul; 185(7): 2070–2083. Published online 2021 May 7. doi: 10.1002/ajmg.a.62224

PMCID:: PMC8251932

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Select item 817709115.

Oculocerebrorenal syndrome of Lowe: Survey of ophthalmic presentations and management

Xiaowan Ma, Ke Ning, Sayena Jabbehdari, Philipp P. Prosseda, Yang Hu, Ann Shue, Scott R. Lambert, Yang Sun

Eur J Ophthalmol. Author manuscript; available in PMC 2021 Jun 4.

Published in final edited form as: Eur J Ophthalmol. 2020 Sep; 30(5): 966–973. Published online 2020 Apr 27. doi: 10.1177/1120672120920544

PMCID:: PMC8177091

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Select item 793579316.

Pathogenicity assessment of variants for breast cancer susceptibility genes based on BRCAness of tumor sample

Reiko Yoshida, Taichi Hagio, Tomoko Kaneyasu, Osamu Gotoh, Tomo Osako, Norio Tanaka, Sayuri Amino, Noriko Yaguchi, Eri Nakashima, Dai Kitagawa, Takayuki Ueno, Shinji Ohno, Takeshi Nakajima, Seigo Nakamura, Yoshio Miki, Toru Hirota, Shunji Takahashi, Masaaki Matsuura, Tetsuo Noda, Seiichi Mori

Cancer Sci. 2021 Mar; 112(3): 1310–1319. Published online 2021 Feb 2. doi: 10.1111/cas.14803

PMCID:: PMC7935793

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Select item 793444917.

Improved Genome Editing through Inhibition of FANCM and Members of the BTR Dissolvase Complex

Gustavo de Alencastro, Francesco Puzzo, Mara Pavel-Dinu, Feijie Zhang, Sirika Pillay, Karim Majzoub, Matthew Tiffany, Hagoon Jang, Adam Sheikali, M. Kyle Cromer, Ruhikanta Meetei, Jan E. Carette, Matthew H. Porteus, Katja Pekrun, Mark A. Kay

Mol Ther. 2021 Mar 3; 29(3): 1016–1027. Published online 2020 Oct 22. doi: 10.1016/j.ymthe.2020.10.020

PMCID:: PMC7934449

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Select item 793155918.

Etiologic distribution and clinical characteristics of pediatric diabetes in 276 children and adolescents with diabetes at a single academic center

Ja Hye Kim, Yena Lee, Yunha Choi, Gu-Hwan Kim, Han-Wook Yoo, Jin-Ho Choi

BMC Pediatr. 2021; 21: 108. Published online 2021 Mar 4. doi: 10.1186/s12887-021-02575-6

PMCID:: PMC7931559

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Select item 780226419.

Clinical manifestation and genetic findings in three boys with low molecular Weight Proteinuria - three case reports for exploring Dent Disease and Fanconi syndrome

Nan Duan, Chenwei Huang, Lu Pang, Shiju Jiang, Wenshuang Yang, Haixia Li

BMC Nephrol. 2021; 22: 24. Published online 2021 Jan 11. doi: 10.1186/s12882-020-02225-6

PMCID:: PMC7802264

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Select item 778504420.

Predicted Chemotherapy Benefit for Breast Cancer Patients With Germline Pathogenic Variants in Cancer Susceptibility Genes

Allison W Kurian, Kevin C Ward, Paul Abrahamse, Ann S Hamilton, Steven J Katz

JNCI Cancer Spectr. 2021 Feb; 5(1): pkaa083. Published online 2020 Sep 18. doi: 10.1093/jncics/pkaa083

PMCID:: PMC7785044

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