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JOURNAL ARTICLE
Zongsheng He, Arne S IJpma, Dianne Vreeken, Daphne Heijsman, Karen Rosier, Hence J M Verhagen, Jorg de Bruin, Hennie T Brüggenwirth, Jolien W Roos-Hesselink, Jos A Bekkers, Danny Huylebroeck, Heleen van Beusekom, John W M Creemers, Danielle Majoor-Krakauer
AIM: Aortic aneurysms (AA) frequently involve dysregulation of transforming growth factor β (TGF-β)-signaling in the aorta. Here, FURIN was tested as aneurysm predisposition gene given its role as proprotein convertase in pro-TGF-β maturation. METHODS AND RESULTS: Rare FURIN variants were detected by whole-exome sequencing of 781 unrelated aortic aneurysm patients and affected relatives. Thirteen rare heterozygous FURIN variants occurred in 3.7% (29) unrelated index AA patients, of which 72% had multiple aneurysms or a dissection...
April 18, 2024: Cardiovascular Research
#2
JOURNAL ARTICLE
Ksenia G Kuznetsova, Jakub Vašíček, Dafni Skiadopoulou, Janne Molnes, Miriam Udler, Stefan Johansson, Pål Rasmus Njølstad, Alisa Manning, Marc Vaudel
Monogenic diabetes is characterized as a group of diseases caused by rare variants in single genes. Like for other rare diseases, multiple genes have been linked to monogenic diabetes with different measures of pathogenicity, but the information on the genes and variants is not unified among different resources, making it challenging to process them informatically. We have developed an automated pipeline for collecting and harmonizing data on genetic variants linked to monogenic diabetes. Furthermore, we have translated variant genetic sequences into protein sequences accounting for all protein isoforms and their variants...
2024: PloS One
#3
JOURNAL ARTICLE
Kriti Shukla, Kelvin Idanwekhai, Martin Naradikian, Stephanie Ting, Stephen P Schoenberger, Elizabeth Brunk
Research in the human genome sciences generates a substantial amount of genetic data for hundreds of thousands of individuals, which concomitantly increases the number of variants of unknown significance (VUS). Bioinformatic analyses can successfully reveal rare variants and variants with clear associations with disease-related phenotypes. These studies have had a significant impact on how clinical genetic screens are interpreted and how patients are stratified for treatment. There are few, if any, computational methods for variants comparable to biological activity predictions...
April 18, 2024: Journal of Chemical Information and Modeling
#4
JOURNAL ARTICLE
Cheng Zhang, Wenmiao Liu, Lulu Xu, Shiguo Liu, Fengyuan Che
ASH1L potentially contributes to Tourette syndrome (TS) and other neuropsychiatric disorders, as our previous studies have shown. It regulates essential developmental genes by counteracting polycomb-mediated transcriptional repression, which restricts chromatin accessibility at target genes. ASH1L is highly expressed in the adult brain, playing a crucial role in the early stage. However, it remains unclear how ASH1L mutations carried by patients with TS participate in regulating neuronal growth processes leading to TS traits...
April 18, 2024: European Child & Adolescent Psychiatry
#5
JOURNAL ARTICLE
D V Erygin, I A Sklyar, Yu S Esakov, D V Ruchkin, I Yu Nedoluzhko, V N Galkin
OBJECTIVE: To present treatment of primary esophageal melanoma in a young patient, as well as review of modern data on this issue. MATERIAL AND METHODS: We describe the results of treatment of a patient with primary melanoma of the esophagus. PubMed, SCOPUS, and elibrary databases were used for the review. RESULTS: We present a rare case of primary esophageal melanoma and variant of radical surgical treatment. The review is devoted to historical information about this nosology, statistical data, options for diagnosis and treatment...
2024: Khirurgiia
#6
Sharina Macapagal, Chalothorn Wannaphut, Toshiaki Takahashi, Thanaboon Yinadsawaphan, Yoshito Nishimura, Jared Acoba
Blastoid mantle cell lymphoma (MCL) is an extremely rare neoplasm with a dismal prognosis. MCL with an initial presentation in the oral cavity has been rarely reported. This report describes a 75-year-old male who presented with an oropharyngeal mass causing dysphonia and intermittent hypoxia. A biopsy and immunophenotyping confirmed MCL, favoring the blastoid variant. Imaging showed a 4.2 cm left oropharyngeal polypoid mass with extensive lymphadenopathy. His prognosis was considered unfavorable with elevated Ki-67 index, blastoid morphology, and p53 positivity of malignant cells...
March 2024: Curēus
#7
Ekaterina Baron, Chih Ching Wu, Kanchan Gupta, Jessica A Wernberg, Michael T Sheehan, Rohit Sharma
Autosomal dominant hereditary paraganglioma-pheochromocytoma syndrome (HPPS) is a rare genetic disorder characterized by neuroendocrine tumor development associated with pathogenic variants in succinate dehydrogenase (SDH) enzyme complex genes. Particularly, HPPS linked to SDHB mutation poses a significant clinical challenge due to its association with aggressive tumor features and a high risk of malignancy. Our report underscores the diversity in the presentation of patients with SDHB-mutated paraganglioma and the feasibility of managing it with a minimally invasive surgical approach...
March 2024: Curēus
#8
Sai Zhang, Tobias Moll, Jasper Rubin-Sigler, Sharon Tu, Shuya Li, Enming Yuan, Menghui Liu, Afreen Butt, Calum Harvey, Sarah Gornall, Elham Alhalthli, Allan Shaw, Cleide Dos Santos Souza, Laura Ferraiuolo, Eran Hornstein, Tatyana Shelkovnikova, Charlotte H van Dijk, Ilia S Timpanaro, Kevin P Kenna, Jianyang Zeng, Philip S Tsao, Pamela J Shaw, Justin K Ichida, Johnathan Cooper-Knock, Michael P Snyder
Amyotrophic lateral sclerosis (ALS) is a fatal and incurable neurodegenerative disease caused by the selective and progressive death of motor neurons (MNs). Understanding the genetic and molecular factors influencing ALS survival is crucial for disease management and therapeutics. In this study, we introduce a deep learning-powered genetic analysis framework to link rare noncoding genetic variants to ALS survival. Using data from human induced pluripotent stem cell (iPSC)-derived MNs, this method prioritizes functional noncoding variants using deep learning, links cis-regulatory elements (CREs) to target genes using epigenomics data, and integrates these data through gene-level burden tests to identify survival-modifying variants, CREs, and genes...
April 1, 2024: medRxiv
#9
Takayasu Mori, Takuya Fujimaru, Chunyu Liu, Karynne Patterson, Kouhei Yamamoto, Takefumi Suzuki, Motoko Chiga, Akinari Sekine, Yoshifumi Ubara, Danny E Miller, Miranda Galey, Shintaro Mandai, Fumiaki Ando, Yutaro Mori, Hiroaki Kikuchi, Koichiro Susa, Jessica X Chong, Michael J Bamshad, Yue-Qiu Tan, Feng Zhang, Shinichi Uchida, Eisei Sohara
Autosomal dominant polycystic kidney disease (ADPKD) is a well-described condition in which ~80% of cases have a genetic explanation, while the genetic basis of sporadic cystic kidney disease in adults remains unclear in ~30% of cases. This study aimed to identify novel genes associated with polycystic kidney disease (PKD) in patients with sporadic cystic kidney disease in which a clear genetic change was not identified in established genes. A next-generation sequencing panel analyzed known genes related to renal cysts in 118 sporadic cases, followed by whole-genome sequencing on 47 unrelated individuals without identified candidate variants...
April 5, 2024: medRxiv
#10
Ed M Dicks, Jonthan P Tyrer, Suzana Ezquina, Michelle Jones, John Baierl, Pei-Chen Peng, Michael Diaz, Ellen Goode, Stacey J Winham, Thilo Dörk, Toon Van Gorp, Ana De Fazio, David Bowtell, Kunle Odunsi, Kirsten Moysich, Marina Pavanello, Ian Campbell, James D Brenton, Susan J Ramus, Simon A Gayther, Paul D P Pharoah
Rare, germline loss-of-function variants in a handful of genes that encode DNA repair proteins have been shown to be associated with epithelial ovarian cancer with a stronger association for the high-grade serous hiostotype. The aim of this study was to collate exome sequencing data from multiple epithelial ovarian cancer case cohorts and controls in order to systematically evaluate the role of coding, loss-of-function variants across the genome in epithelial ovarian cancer risk. We assembled exome data for a total of 2,573 non-mucinous cases (1,876 high-grade serous and 697 non-high grade serous) and 13,925 controls...
April 3, 2024: medRxiv
#11
Katherine A Kentistou, Brandon E M Lim, Lena R Kaisinger, Valgerdur Steinthorsdottir, Luke N Sharp, Kashyap A Patel, Vinicius Tragante, Gareth Hawkes, Eugene J Gardner, Thorhildur Olafsdottir, Andrew R Wood, Yajie Zhao, Gudmar Thorleifsson, Felix R Day, Susan E Ozanne, Andrew T Hattersley, Stephen O'Rahilly, Kari Stefansson, Ken K Ong, Robin N Beaumont, John R B Perry, Rachel M Freathy
Investigating the genetic factors influencing human birth weight may lead to biological insights into fetal growth and long-term health. Genome-wide association studies of birth weight have highlighted associated variants in more than 200 regions of the genome, but the causal genes are mostly unknown. Rare genetic variants with robust evidence of association are more likely to point to causal genes, but to date, only a few rare variants are known to influence birth weight. We aimed to identify genes that harbour rare variants that impact birth weight when carried by either the fetus or the mother, by analysing whole exome sequence data in UK Biobank participants...
April 3, 2024: medRxiv
#12
Marie C Sadler, Alexander Apostolov, Caterina Cevallos, Diogo M Ribeiro, Russ B Altman, Zoltán Kutalik
Electronic health records (EHRs) coupled with large-scale biobanks offer great promises to unravel the genetic underpinnings of treatment efficacy. However, medication-induced biomarker trajectories stemming from such records remain poorly studied. Here, we extract clinical and medication prescription data from EHRs and conduct GWAS and rare variant burden tests in the UK Biobank (discovery) and the All of Us program (replication) on ten cardiometabolic drug response outcomes including lipid response to statins, HbA1c response to metformin and blood pressure response to antihypertensives (N = 740-26,669)...
April 7, 2024: medRxiv
#13
R Colin Carter, Zikun Yang, Tugba Akkaya-Hocagil, Sandra W Jacobson, Joseph L Jacobson, Neil C Dodge, H Eugene Hoyme, Steven H Zeisel, Ernesta M Meintjes, Caghan Kizil, Giuseppe Tosto
Ancestrally admixed populations are underrepresented in genetic studies of complex diseases, which are still dominated by European-descent populations. This is relevant not only from a representation standpoint but also because of admixed populations' unique features, including being enriched for rare variants, for which effect sizes are disproportionately larger than common polymorphisms. Furthermore, results from these populations may be generalizable to other populations. The South African Cape Coloured (SACC) population is genetically admixed, with one of the highest prevalences of fetal alcohol spectrum disorders (FASD) worldwide...
April 1, 2024: medRxiv
#14
REVIEW
XiaoXuan Han, Danni Li, Yimin Zhu, Elena K Schneider-Futschik
Cystic fibrosis (CF) is a genetic disorder arising from variations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, leading to multiple organ system defects. CFTR tool compounds are molecules that can modify the activity of the CFTR channel. Especially, patients that are currently not able to benefit from approved CFTR modulators, such as patients with rare CFTR variants, benefit from further research in discovering novel tools to modulate CFTR. This Review explores the development and classification of CFTR tool compounds, including CFTR blockers (CFTRinh-172, GlyH-101), potentiators (VRT-532, Genistein), correctors (VRT-325, Corr-4a), and other approved and unapproved modulators, with detailed descriptions and discussions for each compound...
April 12, 2024: ACS Pharmacology & Translational Science
#15
Varsha Jagtap, Anurag Lila, Manjiri Karlekar, Vijaya Sarathi, Tushar Bandgar
Glucocorticoid resistance syndrome is a rare disorder with no genetically proven cases reported from India; in addition, there are no descriptions available regarding its management during pregnancy. A 27-year-old woman, hypertensive since the age of 17 years, presented with hypokalemic paresis. She reported regular menses and acne. On investigation, she had elevated serum cortisol that remained unsuppressed after a low-dose dexamethasone suppression test. Genetic analysis revealed a novel, homozygous missense variant in exon 5 of the NR3C1 gene confirming glucocorticoid resistance syndrome...
April 2024: JCEM Case Rep
#16
Sara Wetzler, Camila Cabrera, Peter S Bernstein
Spontaneous uterine rupture in unscarred uteri complicated by pulmonary emboli is a rare event with major maternal morbidity and mortality. This is a case of a 32-year-old woman, G1P0, at term, with no pertinent past medical/surgical history, who underwent an emergency cesarean delivery for failed induction of labor complicated by uterine rupture. Post-operatively, the patient was tachycardic and hypoxic. CT arteriogram revealed massive bilateral pulmonary emboli, and she was transferred for specialist care...
June 2024: Case Reports in Women's Health
#17
George Mason, Rhian Aghajani, Brieanna Dance, Jad Othman, Linda Goodwin, William Stevenson, Naomi Mackinlay
Casitas B-cell lineage (CBL) syndrome is a rare RASopathy known to predispose to CBL-mutated juvenile myelomonocytic leukemia (JMML) in childhood. Adulthood acute myeloid leukemia arising out of a genetic aberrancies consistent with prior CBL-mutated JMML has been twice previously described, but chronic myeloproliferative neoplasia has not. We present a case of progressive myeloproliferative neoplasm in adulthood in the context of CBL syndrome alongside a novel CSF3R variant. We also review pathogenic splice-site mutations in CBL-mutated JMML...
April 2024: EJHaem
#18
JOURNAL ARTICLE
Jonas Ghouse, Gardar Sveinbjörnsson, Marijana Vujkovic, Anne-Sofie Seidelin, Helene Gellert-Kristensen, Gustav Ahlberg, Vinicius Tragante, Søren A Rand, Joseph Brancale, Silvia Vilarinho, Pia Rengtved Lundegaard, Erik Sørensen, Christian Erikstrup, Mie Topholm Bruun, Bitten Aagaard Jensen, Søren Brunak, Karina Banasik, Henrik Ullum, Niek Verweij, Luca Lotta, Aris Baras, Tooraj Mirshahi, David J Carey, David E Kaplan, Julie Lynch, Timothy Morgan, Tae-Hwi Schwantes-An, Daniel R Dochtermann, Saiju Pyarajan, Philip S Tsao, Triin Laisk, Reedik Mägi, Julia Kozlitina, Anne Tybjærg-Hansen, David Jones, Kirk U Knowlton, Lincoln Nadauld, Egil Ferkingstad, Einar S Björnsson, Magnus O Ulfarsson, Árni Sturluson, Patrick Sulem, Ole B Pedersen, Sisse R Ostrowski, Daniel F Gudbjartsson, Kari Stefansson, Morten Salling Olesen, Kyong-Mi Chang, Hilma Holm, Henning Bundgaard, Stefan Stender
We report a multi-ancestry genome-wide association study on liver cirrhosis and its associated endophenotypes, alanine aminotransferase (ALT) and γ-glutamyl transferase. Using data from 12 cohorts, including 18,265 cases with cirrhosis, 1,782,047 controls, up to 1 million individuals with liver function tests and a validation cohort of 21,689 cases and 617,729 controls, we identify and validate 14 risk associations for cirrhosis. Many variants are located near genes involved in hepatic lipid metabolism...
April 17, 2024: Nature Genetics
#19
J D Oleas Quezada, J A Coyago Iñiguez, E R Guerrero Cevallos
This case report examines peripartum cardiomyopathy (PPCM), a rare variant of heart failure with reduced ejection fraction, which manifests at the end of labor or puerperium. The frequency of this pathology varies globally, and its association with risk factors such as genetic disorders, autoimmune diseases, viral infections, suggests a multifactorial etiology. Diagnostic criteria include: Heart failure secondary to left ventricular systolic dysfunction, manifested in the puerperium or at the end of pregnancy and lack of other identifiable causes of heart failure...
April 16, 2024: Hipertensión y Riesgo Vascular
#20
JOURNAL ARTICLE
Teresa Moraleda Mesa, Cristina de la Torre Sandoval, Sara Duque González, Ana Karina Rolo Álvarez, María Isabel Luis Yanes, Víctor M García Nieto
BACKGROUND AND OBJECTIVE: The association of hypouricemia and hypercalciuria is rare. In 1974 a new syndrome named Hypouricemia with hypercalciuria and decreased bone density was described. Afterwards, some cases with such association were published in which the fractional excretion of urate was higher than 20ml/100ml FGR. We have analyzed a series of children who were diagnosed with hypouricemia and hypercalciuria and who were monitored. The aim of this study was to determine whether our patients could be affected by the aforementioned syndrome or be carriers of a variant of idiopathic hypercalciuria...
April 16, 2024: Nefrología
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