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Items: 1 to 20 of 500

1.
Patient-derived cornea organoid model to study metabolomic characterization of rare disease: aniridia-associated keratopathy
Ali Can Koc, Vedat Sari, Gamze Kocak, Tuba Recber, Emirhan Nemutlu, Daniel Aberdam, Sinan Güven
BMC Ophthalmol. 2025; 25: 14. Published online 2025 Jan 10. doi: 10.1186/s12886-024-03831-w
PMCID:
PMC11724546
AbstractArticlePDF–7.9M
2.
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
AbstractArticlePDF–1.2M
3.
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
AbstractArticlePDF–572K
4.
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
AbstractArticlePDF–4.4M
5.
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
AbstractArticlePDF–4.0M
6.
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
AbstractArticlePDF–1.4M
7.
Biochemical and structural characterization of Rab3GAP reveals insights into Rab18 nucleotide exchange activity
Gage M. J. Fairlie, Kha M. Nguyen, Sung-Eun Nam, Alexandria L. Shaw, Matthew A. H. Parson, Hannah R. Shariati, Xinyin Wang, Meredith L. Jenkins, Michael Gong, John E. Burke, Calvin K. Yip
Nat Commun. 2025; 16: 479. Published online 2025 Jan 8. doi: 10.1038/s41467-025-55828-8
PMCID:
PMC11711316
AbstractArticlePDF–2.8M
8.
An immunohistochemical study of thanatophoric dysplasia type 1 after fetus autopsy examination
Ioanna Abba Deka, Paschalis Theotokis, Maria Eleni Manthou, Angeliki Mathioudi, Evangelia Athanasiou, Soultana Meditskou
Congenit Anom (Kyoto) 2025 Jan-Dec; 65(1): e70004. Published online 2025 Jan 8. doi: 10.1111/cga.70004
PMCID:
PMC11710925
AbstractArticlePDF–26M
9.
Altered tubulin detyrosination due to SVBP malfunction induces cytokinesis failure and senescence, underlying a complex hereditary spastic paraplegia
Nathalie Launay, Maria Espinosa‐Alcantud, Edgard Verdura, Gorka Fernández‐Eulate, Jon Ondaro, Pablo Iruzubieta, Maria Marsal, Agatha Schlüter, Montserrat Ruiz, Stephane Fourcade, Agustí Rodríguez‐Palmero, Miren Zulaica, Andone Sistiaga, Garazi Labayru, Pablo Loza‐Alvarez, Alejandro Vaquero, Adolfo Lopez de Munain, Aurora Pujol
Aging Cell. 2025 Jan; 24(1): e14355. Published online 2024 Oct 16. doi: 10.1111/acel.14355
PMCID:
PMC11709099
AbstractArticlePDF–8.0M
10.
Alström syndrome: the journey to diagnosis
Akshat Sinha, Kerry Leeson-Beevers, Catherine Lewis, Elizabeth Loughery, Tarekegn Geberhiwot
Orphanet J Rare Dis. 2025; 20: 5. Published online 2025 Jan 6. doi: 10.1186/s13023-024-03509-y
PMCID:
PMC11705659
AbstractArticlePDF–1.7M
11.
Single-Cell RNA sequencing reveals mitochondrial dysfunction in microtia chondrocytes
Xinyu Li, Datao Li, Ruhong Zhang
Sci Rep. 2025; 15: 1021. Published online 2025 Jan 6. doi: 10.1038/s41598-025-85169-x
PMCID:
PMC11704343
AbstractArticlePDF–4.2M
12.
Uncovering potential causal genes for undiagnosed congenital anomalies using an in-house pipeline for trio-based whole-genome sequencing
Jeong-Min Kim, Hye-Won Cho, Dong Mun Shin, Oc-Hee Kim, Jihyun Kim, Hyeji Lee, Gang-Hee Lee, Joon-Yong An, Misun Yang, Heui Seung Jo, Ja-Hyun Jang, Yun Sil Chang, Hyun-Young Park, Mi-Hyun Park
Hum Genomics. 2025; 19: 1. Published online 2025 Jan 6. doi: 10.1186/s40246-024-00709-2
PMCID:
PMC11702056
AbstractArticlePDF–1.5M
13.
Cardiovascular changes in Persian cats with polycystic kidney disease: a study of cardiac troponin I, echocardiography and blood pressure
Niloufar Saberi, Ehsan Khaksar, Mohammad Molazem, Seeyamak Mashhady Rafiee
J Feline Med Surg. 2025 Jan; 27(1): 1098612X241303311. Published online 2025 Jan 3. doi: 10.1177/1098612X241303311
PMCID:
PMC11700427
AbstractArticlePDF–596K
14.
Cryo-EM structure and oligomerization of the human planar cell polarity core protein Vangl1
Fan Zhang, Shaobai Li, Hao Wu, Shanshuang Chen
Nat Commun. 2025; 16: 135. Published online 2025 Jan 3. doi: 10.1038/s41467-024-55397-2
PMCID:
PMC11698883
AbstractArticlePDF–2.7M
15.
Optical coherence tomography (OCT) and OCT-angiography in syndromic versus non-syndromic USH2A-associated retinopathy
Alessio Antropoli, Alessandro Arrigo, Carlo Caprara, Lorenzo Bianco, Stefano Mercuri, Alessandro Berni, Ilaria Passerini, Sofia Gambarotta, Andrea Sodi, Francesco Bandello, Vittoria Murro, Maurizio Battaglia Parodi
Eur J Ophthalmol. 2025 Jan; 35(1): 106–111. Published online 2024 Apr 11. doi: 10.1177/11206721241247421
PMCID:
PMC11697501
AbstractArticlePDF–589K
16.
G-quadruplex stabilization provokes DNA breaks in human PKD1, revealing a second hit mechanism for ADPKD
Agata M. Parsons, Seth Byrne, Jesse Kooistra, John Dewey, Aaron L. Zebolsky, Gloria Alvarado, Gerrit J. Bouma, Gregory B. Vanden Heuvel, Erik D. Larson
Nat Commun. 2025; 16: 121. Published online 2025 Jan 2. doi: 10.1038/s41467-024-55684-y
PMCID:
PMC11696556
AbstractArticlePDF–1.6M
17.
Elevated microRNA-187 causes cardiac endothelial dysplasia to promote congenital heart disease through inhibition of NIPBL
Chao Li, Zizheng Tan, Hongdou Li, Xiaoying Yao, Chuyue Peng, Yue Qi, Bo Wu, Tongjin Zhao, Chentao Li, Jianfeng Shen, Hongyan Wang
J Clin Invest. 2025 Jan 2; 135(1): e178355. Published online 2024 Nov 25. doi: 10.1172/JCI178355
PMCID:
PMC11684815
AbstractArticlePDF–12M
18.
Cardiovascular Diseases in Public Health: Chromosomal Abnormalities in Congenital Heart Disease Causing Sudden Cardiac Death in Children
Cecilia Salzillo, Marco La Verde, Amalia Imparato, Rossella Molitierno, Stefano Lucà, Francesca Pagliuca, Andrea Marzullo
Medicina (Kaunas) 2024 Dec; 60(12): 1976. Published online 2024 Dec 1. doi: 10.3390/medicina60121976
PMCID:
PMC11679308
AbstractArticlePDF–781K
19.
Cellular and Molecular Effects of the Bruck Syndrome-Associated Mutation in the PLOD2 Gene
Olga I. Bolshakova, Evgenia M. Latypova, Artem E. Komissarov, Alexandra D. Slobodina, Elena V. Ryabova, Elena Yu. Varfolomeeva, Olga E. Agranovich, Sergey F. Batkin, Svetlana V. Sarantseva
Int J Mol Sci. 2024 Dec; 25(24): 13379. Published online 2024 Dec 13. doi: 10.3390/ijms252413379
PMCID:
PMC11676324
AbstractArticlePDF–8.4M
20.
Novel Intragenic and Genomic Variants Highlight the Phenotypic Variability in HCCS-Related Disease
Linda M. Reis, Donald Basel, Pierre Bitoun, David S. Walton, Tom Glaser, Elena V. Semina
Genes (Basel) 2024 Dec; 15(12): 1636. Published online 2024 Dec 20. doi: 10.3390/genes15121636
PMCID:
PMC11675438
AbstractArticlePDF–705K

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