PMC Articles for MedGen (Select 892728) - PMC

E. Jean Finnegan, Peter A. Crisp, Peng Zhang, Judith Eglitis-Sexton, Julian Greenwood, Jessica Hintzsche, Jianbo Li, Jen Taylor, Xiaomei Wallace, Stephen Swain

Theor Appl Genet. 2025; 138(1): 26. Published online 2025 Jan 10. doi: 10.1007/s00122-024-04799-3

PMCID:: PMC11723894

Abstract Article PDF–8.5M

Select item 117207904.

Analysis of Clinical and Laboratory Profiles of Patients Hospitalized with Hemorrhagic Fever with Renal Syndrome in Southwestern South Korea

Ma Eum Park, Da Young Kim, Jun-Won Seo, Na Ra Yun, You Mi Lee, Choon Mee Kim, Dong-Min Kim

Am J Trop Med Hyg. 2025 Jan; 112(1): 161–166. Published online 2024 Oct 29. doi: 10.4269/ajtmh.24-0019

PMCID:: PMC11720790

Abstract Article PDF–933K

Select item 117204245.

Ligand-Independent Vitamin D Receptor Actions Essential for Keratinocyte Homeostasis in the Skin

Satoko Kise, Shinichi Morita, Toshiyuki Sakaki, Hiroyuki Kimura, Seigo Kinuya, Kaori Yasuda

Int J Mol Sci. 2025 Jan; 26(1): 422. Published online 2025 Jan 6. doi: 10.3390/ijms26010422

PMCID:: PMC11720424

Abstract Article PDF–5.0M

Select item 117203776.

Chromosomal Abnormalities in Miscarriages and Maternal Age: New Insights from the Study of 7118 Cases

Anna A. Pendina, Mikhail I. Krapivin, Olga G. Chiryaeva, Lubov’ I. Petrova, Elizaveta P. Pashkova, Arina V. Golubeva, Andrei V. Tikhonov, Alla S. Koltsova, Ekaterina D. Trusova, Dmitrii A. Staroverov, Andrey S. Glotov, Olesya N. Bespalova, Olga A. Efimova

Cells. 2025 Jan; 14(1): 8. Published online 2024 Dec 26. doi: 10.3390/cells14010008

PMCID:: PMC11720377

Abstract Article PDF–1.5M

Select item 117201867.

In Vitro Effect of Estrogen and Progesterone on Cytogenetic Profile of Uterine Leiomyomas

Alla S. Koltsova, Anna A. Pendina, Olga V. Malysheva, Ekaterina D. Trusova, Dmitrii A. Staroverov, Maria I. Yarmolinskaya, Nikolai I. Polenov, Andrey S. Glotov, Igor Yu. Kogan, Olga A. Efimova

Int J Mol Sci. 2025 Jan; 26(1): 96. Published online 2024 Dec 26. doi: 10.3390/ijms26010096

PMCID:: PMC11720186

Abstract Article PDF–2.8M

Select item 117201538.

Dual Roles of miR-10a-5p and miR-10b-5p as Tumor Suppressors and Oncogenes in Diverse Cancers

Rajan Singh, Se Eun Ha, Tae Yang Yu, Seungil Ro

Int J Mol Sci. 2025 Jan; 26(1): 415. Published online 2025 Jan 6. doi: 10.3390/ijms26010415

PMCID:: PMC11720153

Abstract Article PDF–1.4M

Select item 117191099.

Supplementation with nicotinamide limits accelerated aging in affected individuals with cockayne syndrome and restores antioxidant defenses

Asma Chikhaoui, Kouloud Zayoud, Ichraf Kraoua, Sami Bouchoucha, Anis Tebourbi, Ilhem Turki, Houda Yacoub-Youssef

Aging (Albany NY) 2024 Nov 30; 16(21): 13271–13287. Published online 2024 Nov 26. doi: 10.18632/aging.206160

PMCID:: PMC11719109

Abstract Article PDF–1.3M

Select item 1171773510.

Phenotype‐to‐Genotype Description of Prenatal Suspected and Postnatal Discovered Upper Limb Anomalies: A Retrospective Cohort Study

Arda Arduç, Sandra J. B. van Dijk, Feikje J. ten Cate, Margriet H. M. van Doesburg, Ingeborg H. Linskens, Elisabeth van Leeuwen, Merel C. van Maarle, Eva Pajkrt

Prenat Diagn. 2025 Jan; 45(1): 3–14. Published online 2024 Nov 29. doi: 10.1002/pd.6714

PMCID:: PMC11717735

Abstract Article PDF–1.2M

Select item 1171770111.

Functional variant rs9344 at 11q13.3 regulates CCND1 expression in multiple myeloma with t(11;14)

Hongwei Tang, Huihuang Yan, Suganti Shivaram, Stacey Lehman, Neeraj Sharma, James Smadbeck, Cinthya Zepeda-Mendoza, Shulan Tian, Yan Asmann, Celine Vachon, Alexandre Gaspar Maia, Jonathan Keats, P. Leif Bergsagel, Rafael Fonseca, A. Keith Stewart, Joel-Sean Hsu, Richard K. Kandasamy, Akhilesh Pandey, Marcella A. Kaddoura, Francesco Maura, Amit Mitra, S. Vincent Rajkumar, Shaji K. Kumar, Eran Elhaik, Esteban Braggio, Linda B. Baughn

Leukemia. 2025; 39(1): 42–50. Published online 2024 Oct 14. doi: 10.1038/s41375-024-02363-y

PMCID:: PMC11717701

Abstract Article PDF–1.8M

Select item 1171730912.

Like milk on the stove: Healthcare professionals navigating uncertainty when caring for families with 22q11DS

Sophie Ayoub, Eva De Clercq, Cheryl Cytrynbaum, Luzius A. Steiner, Bernice S. Elger

PLoS One. 2025; 20(1): e0313845. Published online 2025 Jan 9. doi: 10.1371/journal.pone.0313845

PMCID:: PMC11717309

Abstract Article PDF–572K

Select item 1171718013.

Self- versus clinician-collected swabs in anal cancer screening: A clinical trial

Clare E. F. Dyer, Fengyi Jin, Jennifer M. Roberts, I. Mary Poynten, Annabelle Farnsworth, Leon P. McNally, Philip H. Cunningham, Andrew E. Grulich, Richard J. Hillman

PLoS One. 2025; 20(1): e0312781. Published online 2025 Jan 9. doi: 10.1371/journal.pone.0312781

PMCID:: PMC11717180

Abstract Article PDF–511K

Select item 1171415114.

An EED/PRC2‐H19 Loop Regulates Cerebellar Development

Pei‐Pei Liu, Xiao Han, Xiao Li, Shang‐Kun Dai, Ya‐Jie Xu, Lin‐Fei Jiao, Hong‐Zhen Du, Li‐Hua Zhao, Rong‐Feng Li, Zhao‐Qian Teng, Yun‐Gui Yang, Chang‐Mei Liu

Adv Sci (Weinh) 2025 Jan; 12(1): 2403591. Published online 2024 Nov 5. doi: 10.1002/advs.202403591

PMCID:: PMC11714151

Abstract Article PDF–7.3M

Select item 1171172015.

SLC10A7 regulates O-GalNAc glycosylation and Ca²⁺ homeostasis in the secretory pathway: insights into SLC10A7-CDG

Zoé Durin, Aurore Layotte, Willy Morelle, Marine Houdou, Antoine Folcher, Dominique Legrand, Dirk Lefeber, Natalia Prevarskaya, Julia Von Blume, Valérie Cormier-Daire, François Foulquier

Cell Mol Life Sci. 2025 Dec; 82(1): 40. Published online 2025 Jan 8. doi: 10.1007/s00018-024-05551-2

PMCID:: PMC11711720

Abstract Article PDF–4.4M

Select item 1171166016.

Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome

Fulvio D’Abrusco, Valentina Serpieri, Cecilia Maria Taccagni, Jessica Garau, Luca Cattaneo, Monica Boggioni, Simone Gana, Roberta Battini, Enrico Bertini, Ginevra Zanni, Eugen Boltshauser, Renato Borgatti, Romina Romaniello, Sabrina Signorini, Vincenzo Leuzzi, Caterina Caputi, Filippo Manti, Stefano D’Arrigo, Arianna De Laurentiis, Claudio Graziano, Johannes R. Lemke, Federica Morelli, Danijela Petković Ramadža, Fabio Sirchia, Elisa Giorgio, Enza Maria Valente

Eur J Hum Genet. 2025 Jan; 33(1): 72–79. Published online 2024 Oct 11. doi: 10.1038/s41431-024-01703-x

PMCID:: PMC11711660

Abstract Article PDF–1.2M

Select item 1171165917.

Auditory evoked-potential abnormalities in a mouse model of 22q11.2 Deletion Syndrome and their interactions with hearing impairment

Chen Lu, Jennifer F. Linden

Transl Psychiatry. 2025; 15: 4. Published online 2025 Jan 8. doi: 10.1038/s41398-024-03218-x

PMCID:: PMC11711659

Abstract Article PDF–2.8M

Select item 1171156818.

Organic matter decay and bacterial community succession in mangroves under simulated climate change scenarios

Juanita H. Solano, Marta A. Moitinho, Josiane B. Chiaramonte, Laura Bononi, Ana Paula Packer, Itamar S. Melo, Francisco Dini-Andreote, Siu Mui Tsai, Rodrigo G. Taketani

Braz J Microbiol. 2024 Dec; 55(4): 3353–3362. Published online 2024 Jul 19. doi: 10.1007/s42770-024-01455-2

PMCID:: PMC11711568

Abstract Article PDF–1.8M

Select item 1171154619.

Heterozygous variants in the teashirt zinc finger homeobox 3 (TSHZ3) gene in human congenital anomalies of the kidney and urinary tract

Esra Kesdiren, Helge Martens, Frank Brand, Lina Werfel, Lukas Wedekind, Mark-Oliver Trowe, Jessica Schmitz, Imke Hennies, Robert Geffers, Zoran Gucev, Tomáš Seeman, Sonja Schmidt, Velibor Tasic, Laurent Fasano, Jan H. Bräsen, Andreas Kispert, Anne Christians, Dieter Haffner, Ruthild G. Weber

Eur J Hum Genet. 2025 Jan; 33(1): 44–55. Published online 2024 Oct 17. doi: 10.1038/s41431-024-01710-y

PMCID:: PMC11711546

Abstract Article PDF–4.0M

Select item 1171137920.

Novel fetal phenotype of TAF8 deficiency

Golan Nadav, Marwan Odeh, Aviv Mesika, Yael Abarbanel Har-Tal, Moshe Goldfeld, Tania Zalatkin, Alejandro Livoff, Raghad Jeris Khoury, Inshirah Sgayer, Liat Ben-Sira, Limor Kalfon, Tzipora C. Falik-Zaccai

Eur J Hum Genet. 2025 Jan; 33(1): 24–29. Published online 2024 Aug 21. doi: 10.1038/s41431-024-01679-8

PMCID:: PMC11711379

Abstract Article PDF–1.4M

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