Use the keywords feature with a free QxMD account.
Use Read by QxMD to access full text via your institution or open access sources.
Read also provides personalized recommendations to keep you up to date in your field.
Existing User
Sign InNew to Read
Sign Up#21
Aleksandra Greshnova, Karol Pál, Juan Francisco Iturralde Martinez, Stefan Canzar, Kateryna D Makova
Y chromosomes of great apes harbor A mpliconic G enes (YAGs)-multi-copy gene families ( BPY2 , CDY , DAZ , HSFY , PRY , RBMY , TSPY , VCY , and XKRY ) that encode proteins important for spermatogenesis. Previous work assembled YAG transcripts based on their targeted sequencing but not using reference genome assemblies, potentially resulting in an incomplete transcript repertoire. Here we used the recently produced gapless telomere-to-telomere (T2T) Y chromosome assemblies of great ape species (bonobo, chimpanzee, human, gorilla, Bornean orangutan, and Sumatran orangutan) and analyzed RNA data from whole-testis samples for the same species...
April 3, 2024: bioRxiv
#22
JOURNAL ARTICLE
Nayla Y León, Thanh Nha Uyen Le, Andrew Garvie, Lee H Wong, Stefan Bagheri-Fam, Vincent R Harley
ATR-X (alpha thalassemia, mental retardation, X-linked) syndrome features genital and testicular abnormalities including atypical genitalia and small testes with few seminiferous tubules. Our mouse model recapitulated the testicular defects when Atrx was deleted in Sertoli cells (Sc Atrx KO) which displayed G2/M arrest and apoptosis. Here, we investigated the mechanisms underlying these defects. In control mice, Sertoli cells contain a single novel "GATA4 PML nuclear body (NB)" that contained the transcription factor GATA4, ATRX, DAXX, HP1α, and PH3 and co-localized with the Y chromosome short arm (Yp)...
May 17, 2024: IScience
#23
JOURNAL ARTICLE
Kaitlyn J Nielson, Ross Rowsey, Surendra Dasari, William R Sukov, Benjamin R Kipp, Aditya Raghunathan, Rumeal D Whaley, Kingsley Ebare, Melissa L Stanton, Jordan P Reynolds, Vidit Sharma, R Houston Thompson, Stephen A Boorjian, Bradley C Leibovich, Loren Herrera Hernandez, Rafael E Jimenez, John C Cheville, Sounak Gupta
Mucinous tubular and spindle cell carcinoma (MTSCC) shows significant overlap with papillary renal cell carcinoma (PRCC), and harbor recurrent copy-number alterations (CNA). We evaluated 16 RCC with features suggestive of MTSCC using chromosomal microarrays. The cohort was comprised of 8 females and males, each, with an age range of 33-79 years (median, 59), and a tumor size range of 3.4-15.5 cm (median, 5.0). Half the tumors were high-grade (8/16, 50%) with features such as necrosis, marked cytologic atypia, and sarcomatoid differentiation, and 5/16 (31%) were high stage (≥pT3a)...
April 12, 2024: Human Pathology
#24
JOURNAL ARTICLE
Bianca Sacchi, Zoë Humphries, Jana Kružlicová, Markéta Bodláková, Cassandre Pyne, Baharul Choudhury, Yunchen Gong, Václav Bačovský, Roman Hobza, Spencer C H Barrett, Stephen I Wright
Y chromosomes are thought to undergo progressive degeneration due to stepwise loss of recombination and subsequent reduction in selection efficiency. However, the timescales and evolutionary forces driving degeneration remain unclear. To investigate the evolution of sex chromosomes on multiple timescales, we generated a high-quality phased genome assembly of the massive older (<10MYA) and neo (<200,000 years) sex chromosomes in the XYY cytotype of the dioecious plant Rumex hastatulus and a hermaphroditic outgroup R...
April 12, 2024: Molecular Biology and Evolution
#25
JOURNAL ARTICLE
Rupin Shah, Amarnath Rambhatla, Widi Atmoko, Marlon Martinez, Imad Ziouziou, Priyank Kothari, Nicholas Tadros, Nguyen Ho Vinh Phuoc, Parviz Kavoussi, Ahmed Harraz, Gianmaria Salvio, Murat Gul, Taha Hamoda, Tuncay Toprak, Ponco Birowo, Edmund Ko, Mohamed Arafa, Ramy Abou Ghayda, Vilvapathy Senguttuvan Karthikeyan, Ramadan Saleh, Giorgio Ivan Russo, Germar-Michael Pinggera, Eric Chung, Missy Savira, Giovanni M Colpi, Wael Zohdy, Edoardo Pescatori, Hyun Jun Park, Shinichiro Fukuhara, Akira Tsujimura, Cesar Rojas-Cruz, Angelo Marino, Siu King Mak, Edouard Amar, Wael Ibrahim, Puneet Sindhwani, Naif Alhathal, Gian Maria Busetto, Manaf Al Hashimi, Ahmed El-Sakka, Asci Ramazan, Fotios Dimitriadis, Massimiliano Timpano, Davor Jezek, Baris Altay, Daniel Suslik Zylbersztejn, Michael Yc Wong, Du Geon Moon, Christine Wyns, Safar Gamidov, Hamed Akhavizadegan, Alessandro Franceschelli, Kaan Aydos, Vinh Nguyen Quang, Shedeed Ashour, Adel Al Dayel, Mohamed S Al-Marhoon, Sava Micic, Saleh Binsaleh, Alayman Hussein, Haitham Elbardisi, Taymour Mostafa, Emad Taha, Jonathan Ramsay, Athanasios Zachariou, Islam Fathy Soliman Abdelrahman, Osvaldo Rajmil, Arif Kalkanli, Juan Manuel Corral Molina, Kadir Bocu, Gede Wirya Kusuma Duarsa, Gokhan Ceker, Ege Can Serefoglu, Fahmi Bahar, Nazim Gherabi, Shinnosuke Kuroda, Abderrazak Bouzouita, Ahmet Gudeloglu, Erman Ceyhan, Mohamed Saeed Mohamed Hasan, Muhammad Ujudud Musa, Ahmad Motawi, Cho Chak-Lam, Hisanori Taniguchi, Christopher Chee Kong Ho, Jesus Fernando Solorzano Vazquez, Shingai Mutambirwa, Nur Dokuzeylul Gungor, Marion Bendayan, Carlo Giulioni, Aykut Baser, Marco Falcone, Luca Boeri, Gideon Blecher, Alireza Kheradmand, Tamilselvi Sethupathy, Ricky Adriansjah, Nima Narimani, Charalampos Konstantinidis, Tuan Thanh Nguyen, Andrian Japari, Parisa Dolati, Keerti Singh, Cevahir Ozer, Selcuk Sarikaya, Nadia Sheibak, Ndagijimana Jean Bosco, Mehmet Serkan Özkent, Sang Thanh Le, Ioannis Sokolakis, Darren Katz, Ryan Smith, Manh Nguyen Truong, Tan V Le, Zhongwei Huang, Muslim Dogan Deger, Umut Arslan, Gokhan Calik, Giorgio Franco, Ayman Rashed, Oguzhan Kahraman, Sotiris Andreadakis, Rosadi Putra, Giancarlo Balercia, Kareim Khalafalla, Rossella Cannarella, Anh Ðăng Tuân, Amr El Meliegy, Birute Zilaitiene, Marlene Lizbeth Zamora Ramirez, Filippo Giacone, Aldo E Calogero, Konstantinos Makarounis, Sunil Jindal, Bac Nguyen Hoai, Ravi Banthia, Marcelo Rodriguez Peña, Dharani Moorthy, Aram Adamyan, Deniz Kulaksiz, Hussein Kandil, Nikolaos Sofikitis, Ciro Salzano, Andreas Jungwirth, Surendra Reddy Banka, Tiago Cesar Mierzwa, Tahsin Turunç, Divyanu Jain, Armen Avoyan, Pietro Salacone, Ateş Kadıoğlu, Chirag Gupta, Haocheng Lin, Iman Shamohammadi, Nasser Mogharabian, Trenton Barrett, Yavuz Onur Danacıoğlu, Andrea Crafa, Salima Daoud, Vineet Malhotra, Abdulmalik Almardawi, Osama Mohamed Selim, Mohamad Moussa, Saeid Haghdani, Mesut Berkan Duran, Yannic Kunz, Mirko Preto, Elena Eugeni, Thang Nguyen, Ahmed Rashad Elshahid, Seso Sulijaya Suyono, Dyandra Parikesit, Essam Nada, Eduardo Gutiérrez Orozco, Florence Boitrelle, Nguyen Thi Minh Trang, Mounir Jamali, Raju Nair, Mikhail Ruzaev, Franco Gadda, Charalampos Thomas, Raphael Henrique Ferreira, Umit Gul, Serena Maruccia, Ajay Kanbur, Ella Kinzikeeva, Saad Abumelha, Nguyen Quang, Raghavender Kosgi, Fatih Gokalp, Mohammad Ayodhia Soebadi, Gustavo Marquesine Paul, Hesamoddin Sajadi, Deepak Gupte, Rafael F Ambar, Emrullah Sogutdelen, Karun Singla, Ari Basurkano, Shannon Hee Kyung Kim, Mohammad Ali Sadighi Gilani, Koichi Nagao, Sakti Ronggowardhana Brodjonegoro, Andri Rezano, Mohamed Elkhouly, Rossella Mazzilli, Hasan M A Farsi, Hung Nguyen Ba, Hamed Alali, Dimitrios Kafetzis, Tran Quang Tien Long, Sami Alsaid, Hoang Bao Ngoc Cuong, Knigavko Oleksandr, Akhmad Mustafa, Herik Acosta, Hrishikesh Pai, Bahadır Şahin, Eko Arianto, Colin Teo, Sanjay Prakash Jayaprakash, Rinaldo Indra Rachman, Mustafa Gurkan Yenice, Omar Sefrioui, Smit Paghdar, Shivam Priyadarshi, Marko Tanic, Noor Kareem Alfatlawy, Fikri Rizaldi, Ranjit B Vishwakarma, George Kanakis, Dinesh Thomas Cherian, Joe Lee, Raisa Galstyan, Hakan Keskin, Jana Wurzacher, Doddy Hami Seno, Bambang S Noegroho, Ria Margiana, Qaisar Javed, Fabrizio Castiglioni, Raman Tanwar, Ana Puigvert, Coşkun Kaya, Medianto Purnomo, Chadi Yazbeck, Azwar Amir, Edson Borges, Marina Bellavia, Isaac Ardianson Deswanto, Vinod K V, Giovanni Liguori, Dang Hoang Minh, Kashif Siddiqi, Fulvio Colombo, Armand Zini, Niket Patel, Selahittin Çayan, Ula Al-Kawaz, Maged Ragab, Charalampos Konstantinidis, Guadalupe Hernández Hebrard, Ivan Hoffmann, Ozan Efesoy, Barış Saylam, Ashok Agarwal
PURPOSE: Non-obstructive azoospermia (NOA) represents the persistent absence of sperm in ejaculate without obstruction, stemming from diverse disease processes. This survey explores global practices in NOA diagnosis, comparing them with guidelines and offering expert recommendations. MATERIALS AND METHODS: A 56-item questionnaire survey on NOA diagnosis and management was conducted globally from July to September 2022. This paper focuses on part 1, evaluating NOA diagnosis...
April 3, 2024: World Journal of Men's Health
#26
JOURNAL ARTICLE
Christoph Nössing, Paula Herek, Shahrokh F Shariat, Walter Berger, Bernhard Englinger
PURPOSE OF REVIEW: Bladder cancer incidence is on the rise, and until recently, there has been little to no change in treatment regimens over the last 40 years. Hence, it is imperative to work on strategies and approaches to untangle the complexity of intra and inter-tumour heterogeneity of bladder cancer with the aim of improving patient-specific care and treatment outcomes. The focus of this review is therefore to highlight novel targets, advances, and therapy approaches for bladder cancer patients...
April 11, 2024: Current Opinion in Urology
#27
JOURNAL ARTICLE
Crystal M Tomlin, Sitaram Rajaraman, Jeanne Theresa Sebesta, Anne-Cathrine Scheen, Mika Bendiksby, Yee Wen Low, Jarkko Salojärvi, Todd P Michael, Victor A Albert, Charlotte Lindqvist
Island systems provide important contexts for studying processes underlying lineage migration, species diversification, and organismal extinction. The Hawaiian endemic mints (Lamiaceae family) are the second largest plant radiation on the isolated Hawaiian Islands. We generated a chromosome-scale reference genome for one Hawaiian species, Stenogyne calaminthoides, and resequenced 45 relatives, representing 34 species, to uncover the continental origins of this group and their subsequent diversification. We further resequenced 109 individuals of two Stenogyne species, and their purported hybrids, found high on the Mauna Kea volcano on the island of Hawai'i...
April 10, 2024: Nature Communications
#28
JOURNAL ARTICLE
Cong Fan, Chao Wang, Yan Wang, Jian Jiang
BACKGROUND: Posterior capsular opacification (PCO) is the main reason affecting the long-term postoperative result of cataract patient, and it is well accepted that fibrotic PCO is driven by transforming growth factor beta (TGFβ) signaling. Ferroptosis, closely related to various ocular diseases, but has not been explored in PCO. METHODS: RNA sequencing (RNA-seq) was performed on both TGF-β2 treated and untreated primary lens epithelial cells (pLECs)...
April 9, 2024: BMC Genomics
#29
JOURNAL ARTICLE
Noelle A Martin, Lauren W Y McLester-Davis, Trevor R Roy, Madeline G Magruder, Waylon J Hastings, Stacy S Drury
Telomeres are ribonucleoprotein structures at the end of all eukaryotic chromosomes that protect DNA from damage and preserve chromosome stability. Telomere length (TL) has been associated with various exposures, biological processes, and health outcomes. This article describes the monochrome multiplex quantitative polymerase chain reaction (MMqPCR) assay protocol routinely conducted in our laboratory for measuring relative mean TL from human DNA. There are several different PCR-based TL measurement methods, but the specific protocol for the MMqPCR method presented in this publication is repeatable, efficient, cost-effective, and suitable for population-based studies...
March 22, 2024: Journal of Visualized Experiments: JoVE
#30
JOURNAL ARTICLE
Sayyed Mohamed Muhsin, Shaima Zohair Arab, Alexis Heng Boon Chin
In recent years, preimplantation genetic testing (PGT) of IVF embryos have gained much traction in clinical assisted reproduction for preventing various genetic defects, including Down syndrome. However, such genetic tests inevitably reveal the sex of IVF embryos by identifying the sex (X and Y) chromosomes. In many countries with less stringent IVF regulations, information on the sex of embryos that are tested to be genetically normal is readily shared with patients. This would thus present Muslim patients with unintended opportunities for sex selection based on personal or social biases without any pressing need or valid medical reason...
April 2024: Asian Bioethics Review
#31
Daniela Araiza-Olivera, Tatiana Y Prudnikova, Cristina Uribe-Alvarez, Kathy Q Cai, Janusz Franco-Barraza, Jesús M Dones, Ronald T Raines, Jonathan Chernoff
Genetic studies indicate that breast cancer can be divided into several basic molecular groups. One of these groups, termed IntClust-2, is characterized by amplification of a small portion of chromosome 11 and has a median survival of only five years. Several cancer-relevant genes occupy this portion of chromosome 11, and it is thought that overexpression of a combination of driver genes in this region is responsible for the poor outcome of women in this group. In this study we used a gene editing method to knock out, one by one, each of 198 genes that are located within the amplified region of chromosome 11 and determined how much each of these genes contributed to the survival of breast cancer cells...
March 28, 2024: bioRxiv
#32
JOURNAL ARTICLE
L Wu, G Zhang, Q Zhu, Y Huang
Kinetochore scaffold 1 (KNL1) is indispensable for generating motile micro-tubule attachments and isolating chromosomes. KNL1 is highly expressed in multiple middle-route tissues and promotes tumor development. However, how it functions in non-small cell lung cancer (NSCLC) is unclear. Real-time quantitative PCR (RT-qPCR) and Western blotting (WB) were used to determine KNL1 expression in NSCLC tissues and cells. The sh-KNL1 or oe-KNL1 was transfected into NSCLC cells. The colony formation assay, cell counting kit-8 (CCK-8) assay, and flow cytometry were used to evaluate cell proliferation and apoptosis...
February 2024: Journal of Physiology and Pharmacology: An Official Journal of the Polish Physiological Society
#33
JOURNAL ARTICLE
Yi Wang, Guang-Nan Gong, Yuan Wang, Ren-Gang Zhang, Elvira Hörandl, Zhi-Xiang Zhang, Deborah Charlesworth, Li He
In the Vetrix clade of Salix, a genus of woody flowering plants, sex determination involves chromosome 15, but an XY system has changed to a ZW system. We studied the detailed genetic changes involved. We used genome sequencing, with chromosome conformation capture (Hi-C) and PacBio HiFi reads to assemble chromosome level gap-free X and Y of Salix arbutifolia, and distinguished the haplotypes in the 15X- and 15Y-linked regions, to study the evolutionary history of the sex-linked regions (SLRs). Our sequencing revealed heteromorphism of the X and Y haplotypes of the SLR, with the X-linked region being considerably larger than the corresponding Y region, mainly due to accumulated repetitive sequences and gene duplications...
April 6, 2024: New Phytologist
#34
JOURNAL ARTICLE
Diego M Peralta, Juan I Túnez, Ulises E Rodríguez Cruz, Santiago G Ceballos
Sex identification is a common objective in molecular ecology. While many vertebrates display sexual dimorphism, determining the sex can be challenging in certain situations, such as species lacking clear sex-related phenotypic characteristics or in studies using non-invasive methods. In these cases, DNA analyses serve as valuable tools not only for sex determination but also for validating sex assignment based on phenotypic traits. In this study, we developed a bioinformatic framework for sex assignment using genomic data obtained through GBS, and having an available closely related genome assembled at the chromosome level...
2024: PloS One
#35
JOURNAL ARTICLE
Danilo Tadeo, Barham Kakavand, Abdul Bhat, Takeshi Tsuda
Aberrant subclavian artery (ASCA) is frequently observed in interrupted aortic arch (IAA) with aortic/subaortic obstruction. Developmental significance of ASCA in IAA in utero remains elusive. Newborns with prenatally diagnosed isolated IAA under continuous prostaglandin E1 infusion were studied. Cross-sectional areas of aortic valve opening (AVOCSA ) and patent ductus arteriosus (PDACSA ) were represented by echocardiographic measurement of (diameter)2 indexed by body surface area (m2 ). Types of IAA and presence of ASCA were examined in relation to sizes of AVOCSA and PDACSA ...
April 5, 2024: Pediatric Cardiology
#36
JOURNAL ARTICLE
Blanca Carrasco, Gloria Zaragoza, David M Arana, Yolanda Hernández-Hermida, Juan-Ignacio Alós
INTRODUCTION: Early and adequate treatment of bloodstream infections decreases patient morbidity and mortality. The objective is to develop a preliminary method for rapid antibiotic susceptibility testing (RAST) in enterobacteria with inducible chromosomal AmpC. METHODS: RAST was performed directly on spiked blood cultures of 49 enterobacteria with inducible chromosomal AmpC. Results were read at 4, 6 and 8h of incubation. Commercial broth microdilution was considered the reference method...
April 2024: Enfermedades infecciosas y microbiologia clinica
#37
JOURNAL ARTICLE
S Z Wang, M D Wang, J Y Wang, M Yuan, Y D Li, P T Luo, F Xiao, H Li
The growth and development of chicken bones have an enormous impact on the health and production performance of chickens. However, the development pattern and genetic regulation of the chicken skeleton are poorly understood. This study aimed to evaluate metatarsal bone growth and development patterns in chickens via non-linear models, and to identify the genetic determinants of metatarsal bone traits using a genome-wide association study (GWAS) based on growth curve parameters. Data on metatarsal length (MeL) and metatarsal circumference (MeC) were obtained from 471 F2 chickens (generated by crossing broiler sires, derived from a line selected for high abdominal fat, with Baier layer dams) at 4, 6, 8, 10, and 12 weeks of age...
March 12, 2024: Animal
#38
MULTICENTER STUDY
Natasha M van Poppelen, Nathalie Cassoux, Joni A Turunen, Nicole C Naus, Robert M Verdijk, Jolanda Vaarwater, Victoria Cohen, Vasilios P Papastefanou, Hayyam Kiratli, Svetlana V Saakyan, Alexander Y Tsygankov, Iwona Rospond-Kubiak, Hardeep S Mudhar, Sachin M Salvi, Jens F Kiilgaard, Steffen Heegaard, Alexandre P Moulin, Maria A Saornil, Ciro Garciá-Alvarez, Maria Fili, Nils A Eide, Peter Meyer, Tero T Kivelä, Annelies de Klein, Emine Kilic, Rana'a T Al-Jamal
PURPOSE: To explore the genetic background of choroidal and ciliary body melanoma among children and young adults, with special focus on BAP1 germline variants in this age group. METHODS: Patients under the age of 25 and with confirmed choroidal or ciliary body melanoma were included in this retrospective, multicenter observational study. Nuclear BAP1 immunopositivity was used to evaluate the presence of functional BAP1 in the tumor. Next-generation sequencing using Ion Torrent platform was used to determine pathogenic variants of BAP1, EIF1AX, SF3B1, GNAQ and GNA11 and chromosome 3 status in the tumor or in DNA extracted from blood or saliva...
April 1, 2024: Investigative Ophthalmology & Visual Science
#39
Meshari Almutairi, Khalid T Alghamdi, Othman T Almutairi, Salman T Almalki, Abdulrahman Y Alturki
Desmoplastic small round cell tumors (DSRCTs) are highly malignant tumors, with distinct reciprocal chromosome translocation (11;22)(p13;q12). Intracranial metastasis is a very rare complication of this tumor, with only a few cases reported in the literature. To our knowledge, this is the only case presenting an extracranial extension of intracranial metastasis of DSRCT. A 33-year-old man was diagnosed with DSRCT in the pelvic cavity. He presented with a scalp lump and right-sided weakness. A biopsy showed metastasis from DSRCT...
March 2024: Curēus
#40
JOURNAL ARTICLE
Hui Yu, Javaid Akhter Bhat, Candong Li, Beifang Zhao, Moran Bu, Zhirui Zhang, Tai Guo, Xianzhong Feng
Using the integrated approach in the present study, we identified eleven significant SNPs, seven stable QTLs and 20 candidate genes associated with branch number in soybean. Branch number is a key yield-related quantitative trait that directly affects the number of pods and seeds per soybean plant. In this study, an integrated approach with a genome-wide association study (GWAS) and haplotype and candidate gene analyses was used to determine the detailed genetic basis of branch number across a diverse set of soybean accessions...
April 3, 2024: TAG. Theoretical and Applied Genetics. Theoretische und Angewandte Genetik
Make the most of Read.
Download the mobile app.
Download the mobile app.
Fetching more papers... 
