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Select item 97400951.

Analysis of SLC26A4, FOXI1, and KCNJ10 Gene Variants in Patients with Incomplete Partition of the Cochlea and Enlarged Vestibular Aqueduct (EVA) Anomalies

Leonid A. Klarov, Vera G. Pshennikova, Georgii P. Romanov, Aleksandra M. Cherdonova, Aisen V. Solovyev, Fedor M. Teryutin, Nikolay V. Luginov, Petr M. Kotlyarov, Nikolay A. Barashkov

Int J Mol Sci. 2022 Dec; 23(23): 15372. Published online 2022 Dec 6. doi: 10.3390/ijms232315372

PMCID:: PMC9740095

Abstract Article PDF–2.1M

Select item 96694072.

Deciphering the roadmap of in vivo reprogramming toward pluripotency

Dafni Chondronasiou, Jaime Martínez de Villarreal, Elena Melendez, Cian J. Lynch, Natalia del Pozo, Marta Kovatcheva, Mònica Aguilera, Neus Prats, Francisco X. Real, Manuel Serrano

Stem Cell Reports. 2022 Nov 8; 17(11): 2501–2517. Published online 2022 Oct 20. doi: 10.1016/j.stemcr.2022.09.009

PMCID:: PMC9669407

Abstract Article PDF–7.6M

Select item 96734543.

Addition of an affected family member to a previously ascertained autosomal recessive nonsyndromic hearing loss pedigree and systematic phenotype-genotype analysis of splice-site variants in MYO15A

Jin-Yuan Yang, Wei-Qian Wang, Ming-Yu Han, Sha-Sha Huang, Guo-Jian Wang, Yu Su, Jin-Cao Xu, Ying Fu, Dong-Yang Kang, Kun Yang, Xin Zhang, Xing Liu, Xue Gao, Yong-Yi Yuan, Pu Dai

BMC Med Genomics. 2022; 15: 241. Published online 2022 Nov 18. doi: 10.1186/s12920-022-01368-9

PMCID:: PMC9673454

Abstract Article PDF–2.5M

Select item 96749464.

Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder

Reham Khalaf-Nazzal, James Fasham, Katherine A. Inskeep, Lauren E. Blizzard, Joseph S. Leslie, Matthew N. Wakeling, Nishanka Ubeyratna, Tadahiro Mitani, Jennifer L. Griffith, Wisam Baker, Fida’ Al-Hijawi, Karen C. Keough, Alper Gezdirici, Loren Pena, Christine G. Spaeth, Peter D. Turnpenny, Joseph R. Walsh, Randall Ray, Amber Neilson, Evguenia Kouranova, Xiaoxia Cui, David T. Curiel, Davut Pehlivan, Zeynep Coban Akdemir, Jennifer E. Posey, James R. Lupski, William B. Dobyns, Rolf W. Stottmann, Andrew H. Crosby, Emma L. Baple

Am J Hum Genet. 2022 Nov 3; 109(11): 2068–2079. Published online 2022 Oct 24. doi: 10.1016/j.ajhg.2022.09.012

PMCID:: PMC9674946

Abstract Article PDF–2.9M

Select item 96779025.

Infantile Pompe disease with intrauterine onset: a case report and literature review

Hongmin Xi, Xianghong Li, Lili Ma, Xiangyun Yin, Ping Yang, Lulu Zhang

Ital J Pediatr. 2022; 48: 187. Published online 2022 Nov 21. doi: 10.1186/s13052-022-01379-3

PMCID:: PMC9677902

Abstract Article PDF–1.7M

Select item 96839666.

TREM2 Is a Prognostic Biomarker and Correlated with an Immunosuppressive Microenvironment in Thyroid Cancer

Jing Wang, Zhendong Li

Dis Markers. 2022; 2022: 1807386. Published online 2022 Nov 16. doi: 10.1155/2022/1807386

PMCID:: PMC9683966

Abstract Article PDF–3.7M

Select item 96898767.

Spectrum of Skeletal Imaging Features in Osteopetrosis: Inheritance Pattern and Radiological Associations

Paolo Spinnato, Elena Pedrini, Miriana Rosaria Petrera, Paola Zarantonello, Giovanni Trisolino, Luca Sangiorgi, Maria Carpenzano, Amandine Crombé, Cecilia Tetta

Genes (Basel) 2022 Nov; 13(11): 1965. Published online 2022 Oct 28. doi: 10.3390/genes13111965

PMCID:: PMC9689876

Abstract Article PDF–14M

Select item 96900408.

Design, Optimization and Validation of the ARMS PCR Protocol for the Rapid Diagnosis of Wilson’s Disease Using a Panel of 14 Common Mutations for the European Population

Mikhail Maksimovich Garbuz, Anna Alexandrovna Ovchinnikova, Vadim Vladimirovich Kumeiko

Genes (Basel) 2022 Nov; 13(11): 1940. Published online 2022 Oct 25. doi: 10.3390/genes13111940

Correction in:: Genes (Basel). 2024 Aug; 15(8): 1070.

PMCID:: PMC9690040

Abstract Article PDF–1.6M

Select item 96938319.

Premature Ovarian Insufficiency in CLPB Deficiency: Transcriptomic, Proteomic and Phenotypic Insights

Elena J Tucker, Megan J Baker, Daniella H Hock, Julia T Warren, Sylvie Jaillard, Katrina M Bell, Rajini Sreenivasan, Shabnam Bakhshalizadeh, Chloe A Hanna, Nikeisha J Caruana, Saskia B Wortmann, Shamima Rahman, Robert D S Pitceathly, Jean Donadieu, Aurelia Alimi, Vincent Launay, Paul Coppo, Sophie Christin-Maitre, Gorjana Robevska, Jocelyn van den Bergen, Brianna L Kline, Katie L Ayers, Phoebe N Stewart, David A Stroud, Diana Stojanovski, Andrew H Sinclair

J Clin Endocrinol Metab. 2022 Dec; 107(12): 3328–3340. Published online 2022 Sep 9. doi: 10.1210/clinem/dgac528

PMCID:: PMC9693831

Abstract Article

Select item 970543910.

Inactivation of LATS1/2 drives luminal-basal plasticity to initiate basal-like mammary carcinomas

Joseph G. Kern, Andrew M. Tilston-Lunel, Anthony Federico, Boting Ning, Amy Mueller, Grace B. Peppler, Eleni Stampouloglou, Nan Cheng, Randy L. Johnson, Marc E. Lenburg, Jennifer E. Beane, Stefano Monti, Xaralabos Varelas

Nat Commun. 2022; 13: 7198. Published online 2022 Nov 28. doi: 10.1038/s41467-022-34864-8

PMCID:: PMC9705439

Abstract Article PDF–6.2M

Select item 970884811.

EZH2-H3K27me3 mediated KRT14 upregulation promotes TNBC peritoneal metastasis

Ayushi Verma, Akhilesh Singh, Manish Pratap Singh, Mushtaq Ahmad Nengroo, Krishan Kumar Saini, Saumya Ranjan Satrusal, Muqtada Ali Khan, Priyank Chaturvedi, Abhipsa Sinha, Sanjeev Meena, Anup Kumar Singh, Dipak Datta

Nat Commun. 2022; 13: 7344. Published online 2022 Nov 29. doi: 10.1038/s41467-022-35059-x

PMCID:: PMC9708848

Abstract Article PDF–29M

Select item 971187312.

Autosomal recessive progeroid syndrome due to homozygosity for a TOMM7 variant

Abhimanyu Garg, Wee-Teik Keng, Zhenkang Chen, Adwait Amod Sathe, Chao Xing, Pavithira Devi Kailasam, Yanqiu Shao, Nicholas P. Lesner, Claire B. Llamas, Anil K. Agarwal, Prashant Mishra

J Clin Invest. 2022 Dec 1; 132(23): e156864. Published online 2022 Dec 1. doi: 10.1172/JCI156864

PMCID:: PMC9711873

Abstract Article PDF–6.3M

Select item 971217113.

Baseline Microperimetry and OCT in the RUSH2A Study: Structure-Function Association and Correlation with Disease Severity

Eleonora M. Lad, Jacque L. Duncan, Wendi Liang, Maureen G. Maguire, Allison R. Ayala, Isabelle Audo, David G. Birch, Joseph Carroll, Janet K. Cheetham, Todd A. Durham, Abigail T. Fahim, Jessica Loo, Zengtian Deng, Dibyendu Mukherjee, Elise Heon, Robert B. Hufnagel, Bin Guan, Alessandro Iannaccone, Glenn J. Jaffe, Christine N. Kay, Michel Michaelides, Mark E. Pennesi, Ajoy Vincent, Christina Y. Weng, Sina Farsiu, Foundation Fighting Blindness Consortium Investigator Group

Am J Ophthalmol. Author manuscript; available in PMC 2023 Dec 1.

Published in final edited form as: Am J Ophthalmol. 2022 Dec; 244: 98–116. Published online 2022 Aug 22. doi: 10.1016/j.ajo.2022.08.013

PMCID:: PMC9712171

Abstract Article PDF–1.1M

Select item 971803914.

Digenic Alport Syndrome

Judy Savige, Alessandra Renieri, Elisabet Ars, Sergio Daga, Anna Maria Pinto, Hansjorg Rothe, Daniel P. Gale, Marina Aksenova, Agne Cerkauskaite, Olga Bielska, Beata Lipska-Zietkiewicz, Joel T. Gibson

Clin J Am Soc Nephrol. 2022 Nov; 17(11): 1697–1706. Published online 2022 Nov. doi: 10.2215/CJN.03120322

Correction in:: Clin J Am Soc Nephrol. 2023 Apr; 18(4): 511.

PMCID:: PMC9718039

Abstract Article

Select item 972944715.

Generation of an iPSC line from a Pontocerebellar Hypoplasia 1B patient harboring a homozygous c.395 A > C mutation in EXOSC3 along with a family matched control

Ben N. Stansfield, Sampath Rangasamy, Keri Ramsey, May Khanna, Jared M. Churko

Stem Cell Res. Author manuscript; available in PMC 2022 Dec 8.

Published in final edited form as: Stem Cell Res. 2022 Dec; 65: 102944. Published online 2022 Oct 13. doi: 10.1016/j.scr.2022.102944

PMCID:: PMC9729447

Abstract Article PDF–952K

Select item 973698816.

Gene Therapy in Combination with Nitrogen Scavenger Pretreatment Corrects Biochemical and Behavioral Abnormalities of Infant Citrullinemia Type 1 Mice

Andrea Bazo, Aquilino Lantero, Itsaso Mauleón, Leire Neri, Martin Poms, Johannes Häberle, Ana Ricobaraza, Bernard Bénichou, Jean-Philippe Combal, Gloria Gonzalez-Aseguinolaza, Rafael Aldabe

Int J Mol Sci. 2022 Dec; 23(23): 14940. Published online 2022 Nov 29. doi: 10.3390/ijms232314940