Article
Genetics & Heredity
Jiahao Song, Qian Zhang, Bing Lu, Zhongshan Gou, Ting Wang, Hui Tang, Jingjing Xiang, Wei Jiang, Xuedong Deng
Summary: The study aimed to refine the genotype-phenotype correlation, and through analyzing a case of a 28-year-old pregnant woman, it was found that chromosome 1q deletion in the fetus was associated with multiple congenital abnormalities. Improved genotype-phenotype correlation could enhance the accuracy of prenatal diagnosis for fetuses with chromosome 1q deletion.
FRONTIERS IN GENETICS
(2021)
Article
Medicine, General & Internal
Osamu Shimokawa, Masayoshi Takeda, Hiroyasu Ohashi, Akemi Shono-Ota, Mami Kumagai, Risa Matsushika, Chika Masuda, Kohtaro Uenishi, Ritsuko Kimata Pooh
Summary: The study introduced a new prenatal screening method called digital karyotyping (D-karyo) that can accurately detect submicroscopic copy-number variations in a short amount of time. This method offers the advantages of low cost and fast turnaround compared to traditional chromosomal analysis techniques.
Article
Genetics & Heredity
Marjo K. Hytonen, Riika Sarviaho, Christopher B. Jackson, Pernilla Syrja, Tarja Jokinen, Kaspar Matiasek, Marco Rosati, Cristina Dallabona, Enrico Baruffini, Ileana Quintero, Meharji Arumilli, Geoffray Monteuuis, Jonas Donner, Marjukka Anttila, Anu Suomalainen, Laurence A. Bindoff, Hannes Lohi
Summary: The study investigated the clinical, genetic, and pathological characteristics of a severe juvenile brain disorder in Parson Russell Terriers. A novel early-onset PITRM1-related neurodegenerative canine brain disorder with mitochondrial dysfunction, A beta accumulation, and lethal epilepsy was described. The findings highlight the essential role of PITRM1 in neuronal survival and strengthen the connection between mitochondrial dysfunction and neurodegeneration.
Article
Genetics & Heredity
Katarzyna Bzdega, Anna Kutkowska-Kazmierczak, Gail H. Deutsch, Izabela Plaskota, Marta Smyk, Magdalena Niemiec, Artur Barczyk, Ewa Obersztyn, Jan Modzelewski, Iwona Lipska, Pawel Stankiewicz, Marzena Gajecka, Malgorzata Rydzanicz, Rafal Ploski, Tomasz Szczapa, Justyna A. Karolak
Summary: Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a fatal lung developmental disorder with extrapulmonary malformations. The majority of ACDMPV patients have genetic variants involving the FOXF1 gene. Prenatal genetic testing can aid in early diagnosis and management of ACDMPV.
Article
Multidisciplinary Sciences
Takeshi Kawakami, Vandana Raghavan, Alison L. Ruhe, Meghan K. Jensen, Ausra Milano, Thomas C. Nelson, Adam R. Boyko
Summary: This study identified a genomic region and a specific genetic mutation associated with early onset adult deafness (EOAD) in Rhodesian Ridgebacks, providing valuable insights for understanding hearing disorders in both dogs and humans.
Article
Medicine, Research & Experimental
Zhonglu Ren, Yunfei Gao, Yue Gao, Guanmei Liang, Qian Chen, Sijia Jiang, Xiaoxue Yang, Cuixia Fan, Haizhen Wang, Jing Wang, Yi-Wu Shi, Chaoqun Xiao, Mei Zhong, Xinping Yang
Summary: The study found that early-onset severe preeclampsia and late-onset severe preeclampsia have different molecular mechanisms, with the former associated with metabolism-related pathways and the latter with immune-related pathways. Some key transcription factors may be driving the widespread gene dysregulation in both early-onset and late-onset patients.
Article
Medicine, General & Internal
Fernanda Guedes Rodrigues, J. Casper Swarte, Rianne M. Douwes, Tim J. Knobbe, Camilo G. Sotomayor, Hans Blokzijl, Rinse K. Weersma, Ita P. Heilberg, Stephan J. L. Bakker, Martin H. de Borst
Summary: The study revealed that higher exhaled H-2 levels in KTR are associated with an increased risk of diarrhea. Polysaccharide intake was independently correlated with higher H-2 levels, with a trend observed for an association with proton-pump inhibitor use.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Obstetrics & Gynecology
Pe'er Dar, Bo Jacobsson, Rebecca Clifton, Melissa Egbert, Fergal Malone, Ronald J. Wapner, Ashley S. Roman, Asma Khalil, Revital Faro, Rajeevi Madankumar, Lance Edwards, Noel Strong, Sina Haeri, Robert Silver, Nidhi Vohra, Jon Hyett, Zachary Demko, Kimberly Martin, Matthew Rabinowitz, Karen Flood, Ylva Carlsson, Georgios Doulaveris, Sean Daly, Maria Hallingstroem, Cora MacPherson, Charlly Kao, Hakon Hakonarson, Mary E. Norton
Summary: Noninvasive cell-free DNA prenatal screening for 22q11.2 deletion syndrome can detect most affected cases, including smaller nested deletions, with a low false positive rate.
AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY
(2022)
Article
Multidisciplinary Sciences
Jingling Li, Thomas Brickler, Allison Banuelos, Kristopher Marjon, Anna Shcherbina, Sravani Banerjee, Jing Bian, Cyndhavi Narayanan, Irving L. Weissman, Sundari Chetty
Summary: CNV at the 16p11.2 locus is linked to neuropsychiatric disorders and affects head sizes differently. Study using hiPSCs reveals that overexpression of CD47 in 16p11.2 deletion carriers decreases phagocytosis, suggesting a potential mechanism for brain overgrowth.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2021)
Article
Biochemistry & Molecular Biology
Giulio Verna, Marina Liso, Elisabetta Cavalcanti, Raffaele Armentano, Alessandro Miraglia, Vladia Monsurro, Marcello Chieppa, Stefania De Santis
Summary: Colorectal cancer is a prime example of the link between inflammation and cancer. Targeting inflammatory mediators has shown to decrease the overall risk of colorectal cancer, although its chemopreventive potential remains debated. The role of tumor necrosis factor (TNF) in the development and progression of colorectal cancer is complex, with TNF having a dual effect.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Biochemistry & Molecular Biology
Isabel Garcia-Martin, Richard J. A. Penketh, Samantha M. Garay, Rhiannon E. Jones, Julia W. Grimstead, Duncan M. Baird, Rosalind M. John
Summary: The study found that prenatal depression symptoms were negatively associated with telomere length in female placenta, indicating accelerated aging. There was no significant association between maternal depression symptoms and telomere length in male placenta, nor was there an association with anxiety symptoms for either sex.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Genetics & Heredity
Georgina Wren, Emily Baker, Jack Underwood, Trevor Humby, Andrew Thompson, George Kirov, Valentina Escott-Price, William Davies
Summary: This study found that genetic deletions at Xp22.31 are associated with an increased risk of abnormal heart rhythms (AHRs) and identified risk factors and comorbidities associated with AHRs. The study also found that deletion carriers overwhelmingly support the implementation of cardiac screening.
JOURNAL OF MEDICAL GENETICS
(2023)
Article
Obstetrics & Gynecology
Qiong Deng, Lihua Huang, Juan Liu, Fu Fang, Zequn Liu, Yongling Zhang, Fatao Li, Can Liao
Summary: This study investigated CNVs in fetal CCAM using CMA and found that the karyotypes of CCAM patients were normal, but pathogenic CNVs were detected in some cases. Patients who underwent surgery had good recovery outcomes, indicating an overall good prognosis for CCAM.
JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE
(2021)
Article
Genetics & Heredity
Francesco Libotte, Marco Fabiani, Katia Margiotti, Antonella Viola, Alvaro Mesoraca, Claudio Giorlandino
Summary: The 4q deletion syndrome is a rare genetic condition caused by a partial, terminal, or interstitial deletion in the long arm of chromosome 4, resulting in a broad spectrum of clinical manifestations. This case report provides insight into the syndrome, highlights the importance of genetic testing and counseling, and emphasizes the significance of reporting unusual chromosome variants for diagnostic purposes.
Article
Genetics & Heredity
Sandra Parenti, Claudio Rabacchi, Marco Marino, Elena Tenedini, Lucia Artuso, Sara Castellano, Chiara Carretta, Selene Mallia, Laura Cortesi, Angela Toss, Elena Barbieri, Rossella Manfredini, Mario Luppi, Tommaso Trenti, Enrico Tagliafico
Summary: NGS-based multigene panel cancer risk screening is a successful cancer prevention strategy, with ATM gene variants increasing breast cancer risk. ATM is the second most mutated gene in BRCA-negative patients.
