Article
Medicine, General & Internal
Maycoll Ferreira Vieira, Daniela Carvalho, Filipa Valentim, Diogo M. Branco, Helena Martinha Marinho
Summary: This is a case of a 10-year-old female with a history of global developmental delay, scoliosis, and other symptoms. A genetic study revealed a rare disorder called terminal 6q27 microdeletion. Early diagnosis and interventions are crucial for such rare diseases.
CUREUS JOURNAL OF MEDICAL SCIENCE
(2022)
Article
Biotechnology & Applied Microbiology
Magdalena Szeliga, Beata Bakera, Magdalena Swiecicka, Miroslaw Tyrka, Monika Rakoczy-Trojanowska
Summary: Wheat flowers can be divided into two groups, one with closed flowers for flowering and pollination, and another with open flowers. The swelling of lodicules is involved in the flowering process and can be differentiated between the two groups. Understanding the mechanism of chasmogamy can help in selecting plants with desired outcrossing rates.
Article
Biology
Yuxuan Sun, Ming Li, Zhongkai Cui, Mengqian Zhang, Tingting Zhang, Lu Li, Na Wang, Xiwen Xu, Min Wei, Wenteng Xu
Summary: By analyzing the transcriptomic profiles of pseudomale and male sperm, key genes involved in pseudomale sperm abnormalities were identified, and the FoxO signaling pathway was found to play an important role in spermatogenesis.
Article
Plant Sciences
Keisuke Tasaki, Aiko Watanabe, Keiichirou Nemoto, Shigekazu Takahashi, Fumina Goto, Nobuhiro Sasaki, Takashi Hikage, Masahiro Nishihara
Summary: In this study, the key gene GtMIF1 for determining the flower colour intensity of gentian was identified through RNA-sequencing analyses. Overexpression of GtMIF1 resulted in reduced flower colour intensity. These findings contribute to a better understanding of the molecular mechanism underlying the variation in the flower colour intensity of gentians.
FRONTIERS IN PLANT SCIENCE
(2022)
Review
Oncology
Ioannis Panagopoulos, Sverre Heim
Summary: Fusion genes are created by the physical joining of two different genes, often as a result of balanced chromosomal rearrangements such as translocations and inversions. Chromosome deletions, which are mostly submicroscopic and not detected by conventional cytogenetic analysis, also play a role in the formation of fusion genes. As tumors are increasingly analyzed using advanced techniques like array comparative genome hybridization (aCGH) and high throughput sequencing (HTS), more interstitial deletions giving rise to fusion genes are expected to be identified, with significant implications for cancer understanding and treatment.
CANCER GENOMICS & PROTEOMICS
(2021)
Article
Plant Sciences
Most. Humaira Sultana, Md. Alamin, Jie Qiu, Longjiang Fan, Chuyu Ye
Summary: This study identified candidate genes responsible for allelopathic interactions between rice and barnyardgrass through transcriptome analysis. The results showed a quick allelopathic response in rice within 3 hours. Comparison of differentially expressed genes (DEGs) between rice and barnyardgrass revealed different mechanisms underlying allelopathic interaction in these two species.
FRONTIERS IN PLANT SCIENCE
(2023)
Article
Plant Sciences
Ahsan Irshad, Huijun Guo, Hongchun Xiong, Yongdun Xie, Hua Jin, Jiayu Gu, Chaojie Wang, Liqun Yu, Xianghui Wen, Shirong Zhao, Luxiang Liu
Summary: Mutation induction through chemical mutagenesis is an effective method for generating diverse germplasm. The introduction of functional alleles in starch biosynthetic genes can enhance the quality and yield of cereals. This study screened a large population of mutant lines and identified high starch and low starch mutants. The analysis revealed significant variation in starch content and the expression of starch metabolic genes in these mutants.
Article
Plant Sciences
T. M. Shaikh, Mukhlesur Rahman, Timothy Smith, James V. V. Anderson, Wun S. S. Chao, David P. P. Horvath
Summary: Homozygosity mapping was used to identify candidate genes responsible for freezing tolerance differences in camelina. We found 9 homozygous blocks and 22 candidate genes on two contiguous contigs, which might be primarily responsible for the freezing tolerance differences.
Review
Genetics & Heredity
Eleana Rraku, Wilhelmina S. Kerstjens-Frederikse, Morris A. Swertz, Trijnie Dijkhuizen, Conny M. A. van Ravenswaaij-Arts, Aafke Engwerda
Summary: The study reveals common clinical characteristics of terminal and subterminal 6p deletions, including ocular anterior segment dysgenesis, vision problems, brain malformations, congenital heart defects, hearing impairment, eye movement abnormalities, and developmental delay. It also suggests that larger deletions may cause additional features such as complex heart defects, corpus callosum abnormalities, kidney abnormalities, and orofacial clefting. The study emphasizes the importance of collecting information directly from parents and provides recommendations for clinical surveillance.
ORPHANET JOURNAL OF RARE DISEASES
(2023)
Article
Biochemistry & Molecular Biology
Ioanna Pyromali, Alexandre Perani, Angelique Nizou, Nesrine Benslimane, Paco Derouault, Sylvie Bourthoumieu, Melanie Fradin, Guilhem Sole, Fanny Duval, Constantin Gomes, Frederic Favreau, Franck Sturtz, Corinne Magdelaine, Anne-Sophie Lia
Summary: This study identified two large structural variants (SVs) in the KIF5A gene using targeted next-generation sequencing and a bioinformatic tool, highlighting the importance of analyzing SVs in addition to single nucleotide variants (SNVs) for the diagnosis of neuropathies. The SVs could be responsible for causing CMT2 and the study suggests a potential role for the NAHR mechanism in one of the SVs.
COMPUTATIONAL AND STRUCTURAL BIOTECHNOLOGY JOURNAL
(2021)
Article
Multidisciplinary Sciences
Zaiqing Wang, Anmin Yu, Fei Li, Wei Xu, Bing Han, Xiaomao Cheng, Aizhong Liu
Summary: This study explored the physiological and molecular mechanisms underlying dwarfism in woody oilseed crop castor bean, revealing divergent cell growth in various tissues and identifying two QTLs associated with plant height. Functional characterization of the Rc5NG4-1 gene encoding an IAA transport protein provided insights into the genetic breeding of castor bean and related crops.
SCIENTIFIC REPORTS
(2021)
Article
Neurosciences
Xiaoting Huang, Yangsa Du, Danni Guo, Fangfang Xie, Chunyao Zhou
Summary: This study aimed to evaluate the coupling of structural connectivity (SC) and functional connectivity (FC) in the entire brain of healthy controls (HCs) and individuals with temporal lobe epilepsy (TLE). The results showed that TLE patients had lower SC-FC coupling strength in specific brain regions compared to HCs, indicating higher susceptibility to pathological disruption.
FRONTIERS IN NEUROSCIENCE
(2023)
Article
Genetics & Heredity
Jing Di, Leonard Yenwongfai, Hillary T. Rieger, Shulin Zhang, Sainan Wei
Summary: Chromosome 4p deletions can result in two phenotypic outcomes: Wolf-Hirschhorn syndrome and proximal interstitial deletions. Proximal 4p interstitial deletions, although rare, can lead to mild to moderate intellectual disability and other physical characteristics. This study reports a case of a 3-year-old female with developmental delays and a 4p15.2-p14 deletion, highlighting the need for healthcare providers to be aware of these deletions and their potential manifestations.
Article
Agriculture, Multidisciplinary
Zou Jia-nan, Zhang Zhan-guo, Kang Qing-lin, Yu Si-yang, Wang Jie-qi, Chen Lin, Liu Van-ru, Ma Chao, Zhu Rong-sheng, Zhu Yong-xu, Dong Xiao-hui, I Jiang Hong-we, Wu Xiao-xia, Wang Nan-nan, Hu Zhen-bang, Qi Zhao-ming, Liu Chun-yan, Chen Qing-shan, Xin Da-wei, Wang Jin-hui
Summary: In this study, chromosome segment substitution lines (CSSLs) were used to identify quantitative trait loci (QTLs) related to nodule number in soybean. Four candidate genes (GmCDPK28, GmNAC1, GmbHLH, and GmERF5) linked to single nucleotide polymorphism (SNP) markers were identified as being related to nodule traits and crucial processes and pathways involved in symbiosis establishment. A candidate gene (GmERF5) encoding a transcription factor that may interact directly with the T3E NopAA was also identified.
JOURNAL OF INTEGRATIVE AGRICULTURE
(2022)
Article
Agriculture, Multidisciplinary
Harun Karci
Summary: This study used the QTL-seq approach to identify genomic regions associated with double seeds in almonds. Three genomic fragments responsible for double seeds were identified, and two putative genes related to double seeds were detected. The findings provide useful information for marker-assisted selection in future almond breeding programs.
TURKISH JOURNAL OF AGRICULTURE AND FORESTRY
(2023)
Article
Genetics & Heredity
Zirui Dong, Matthew Hoi Kin Chau, Yanyan Zhang, Peng Dai, Xiaofan Zhu, Tak Yeung Leung, Xiangdong Kong, Yvonne K. Kwok, Pawel Stankiewicz, Sau Wai Cheung, Kwong Wai Choy
Summary: Chromosomal insertions are rare structural rearrangements, and the mechanisms behind their origin are still poorly understood. This study sequenced 16 cases with simple insertions, identifying additional cryptic rearrangements in 68.8% of cases. Breakpoint analysis revealed microhomology as a predominant feature. The complexity of these insertions suggests they are likely formed by nonhomologous end joining and/or microhomology-mediated replication-based DNA repair.
Article
Endocrinology & Metabolism
Lindsey Nicol, Priya Srikanth, Kim Henriksen, Shu Sun, Rosamund Smith, Morten A. Karsdal, Sandesh C. S. Nagamani, Jay Shapiro, Brendan Lee, Benjamin Z. Leder, Eric Orwoll
Summary: Osteogenesis imperfecta (OI) is a hereditary disorder caused by abnormalities in type I collagen synthesis or processing, characterized by skeletal fragility and possibly extra-skeletal manifestations. Teriparatide therapy has abnormal effects on the homeostasis of multiple extracellular matrix collagens in OI patients compared to postmenopausal women.
Article
Endocrinology & Metabolism
Roland Posset, Stefan Koelker, Florian Gleich, Jurgen G. Okun, Andrea L. Gropman, Sandesh C. S. Nagamani, Svenja Scharre, Joris Probst, Magdalena E. Walter, Georg F. Hoffmann, Sven F. Garbade, Matthias Zielonka
MOLECULAR GENETICS AND METABOLISM
(2020)
Review
Genetics & Heredity
Przemyslaw Szafranski, Pawel Stankiewicz
Summary: FOXF1 adjacent noncoding developmental regulatory RNA (Fendrr) plays a crucial role in controlling gene expression in mammals by sponging microRNAs and protein factors to control mRNA stability and by modifying chromatin structure. In mice, Fendrr is essential for development of the heart, lungs, and gastrointestinal system, and its dysregulation is linked to various diseases.
Article
Medicine, Research & Experimental
Joanna Swierkowska, Justyna A. Karolak, Tomasz Gambin, Malgorzata Rydzanicz, Agata Frajdenberg, Malgorzata Mrugacz, Monika Podfigurna-Musielak, Pawel Stankiewicz, James R. Lupski, Marzena Gajecka
Summary: The study aimed to identify rare sequence variants involved in high myopia in families from Central Europe to better understand the genetic basis of the disorder. Two missense variants in SLC35E2B and FLRT3 were observed segregating with high myopia in one family, suggesting they could be disease candidate genes. The identified sequence variants may be responsible for high myopia in the studied family.
ADVANCES IN MEDICAL SCIENCES
(2021)
Article
Genetics & Heredity
Kevin E. Glinton, Anna C. E. Hurst, Kevin M. Bowling, Ingrid Cristian, Devon Haynes, Dusit Adstamongkonkul, Oskar Schnappauf, David B. Beck, Carole Brewer, Aditi Shah Parikh, Deepali N. Shinde, Alan Donaldson, Ariel Brautbar, Saskia Koene, Arie van Haeringen, Amelie Piton, Yline Capri, Margherita Furlan, Elena Gardella, Rikke Steensbjerre Moller, Irma van de Beek, Linda Zuurbier, Phillis Lakeman, Allan Bayat, Julian Martinez, Rebecca Signer, Pernille M. Torring, Morten Buch Engelund, Karen W. Gripp, Louise Amlie-Wolf, Lindsay B. Henderson, Alina T. Midro, Eugeniusz Tarasow, Beata Stasiewicz-Jarocka, Diana Moskal-Jasinska, Paul Vos, Felix Boschann, Corinna Stoltenburg, Oliver Puk, Inger-Lise Mero, Kristine Lossius, Cyril Mignot, Boris Keren, Johanna C. Acosta Guio, Ignacio Briceno, Alberto Gomez, Yaping Yang, Pawel Stankiewicz
Summary: NEDDFL is a neurodevelopmental disorder characterized by developmental delay, speech delay, microcephaly, and dysmorphic features caused by variants in the BPTF gene. A study described the clinical features in 25 novel individuals with NEDDFL, revealing additional complications such as mild brain abnormalities, seizures, scoliosis, and various ophthalmologic complications. These findings further support the diverse and multi-faceted consequences of haploinsufficiency of BPTF.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2021)
Article
Genetics & Heredity
Chaya N. Murali, Brady Slater, Salma Musaad, David Cuthbertson, Dianne Nguyen, Alicia Turner, Mahshid Azamian, Laura Tosi, Frank Rauch, V. Reid Sutton, Brendan Lee, Sandesh C. S. Nagamani
Summary: PROMs are increasingly used in clinical trials, with SF-12v2 being a commonly used generic measure. In this study, SF-12v2 was found to be valid in assessing physical HRQoL in adults with OI. However, no correlations were found between mental and physical HRQoL in this population.
Article
Genetics & Heredity
Runjun D. Kumar, Lindsay C. Burrage, Jan Bartos, Saima Ali, Eric Schmitt, Sandesh C. S. Nagamani, Cynthia LeMons
Summary: This study utilized a gene panel based on massively parallel sequencing to test 10 individuals with clinical or pedigree-based evidence of proximal UCD without molecular confirmation, identifying causal variants in 5 of the individuals. The findings suggest that deep-intronic pathogenic variants may play an important role in causing OTC deficiency.
MOLECULAR GENETICS AND METABOLISM REPORTS
(2021)
Article
Genetics & Heredity
Xenia Latypova, Marie Vincent, Alice Molle, Oluwadamilare A. Adebambo, Cynthia Fourgeux, Tahir N. Khan, Alfonso Caro, Monica Rosello, Carmen Orellana, Dmitriy Niyazov, Damien Lederer, Marie Deprez, Yline Capri, Peter Kannu, Anne Claude Tabet, Jonathan Levy, Emmelien Aten, Nicolette den Hollander, Miranda Splitt, Jagdeep Walia, Ladonna L. Immken, Pawel Stankiewicz, Kirsty McWalter, Sharon Suchy, Raymond J. Louie, Shannon Bell, Roger E. Stevenson, Justine Rousseau, Catherine Willem, Christelle Retiere, Xiang-Jiao Yang, Philippe M. Campeau, Francisco Martinez, Jill A. Rosenfeld, Cedric Le Caignec, Sebastien Kury, Sandra Mercier, Kamran Moradkhani, Solene Conrad, Thomas Besnard, Benjamin Cogne, Nicholas Katsanis, Stephane Bezieau, Jeremie Poschmann, Erica E. Davis, Bertrand Isidor
Summary: Mutations in the SIN3B gene lead to an unknown intellectual disability and autism syndrome, with crucial roles in the central nervous system similar to SIN3A. Further investigation was done on the molecular consequences of SIN3B impairment.
AMERICAN JOURNAL OF HUMAN GENETICS
(2021)
Article
Genetics & Heredity
Przemyslaw Szafranski, Tomasz Gambin, Justyna A. Karolak, Edwina Popek, Pawel Stankiewicz
Summary: The FOXF1 gene and FENDRR may be coregulated in lung development, with implications for ACDMPV.
Article
Neurosciences
Ariel M. Lyons-Warren, Maria C. McCormack, Jimmy L. Holder
Summary: Sensory processing differences are a characteristic of both syndromic and nonsyndromic Autism Spectrum Disorders (ASDs). This study aimed to determine the sensory processing abnormalities in two syndromic ASDs: Phelan-McDermid Syndrome and SYNGAP1-related Intellectual Disability. The results showed that both patient groups exhibited atypical sensory features. Sensory processing measurements could be useful clinical endpoints for trials of novel therapeutics for these populations.
Article
Biophysics
Neeraja Ravi, Sarah E. Chang, Luis M. Franco, Sandesh C. S. Nagamani, Purvesh Khatri, Paul J. Utz, Shan X. Wang
Summary: Detecting and quantifying the host transcriptional response to influenza virus infection can serve as a real-time diagnostic tool for clinical management. We have developed a novel assay based on the influenza metasignature (IMS) using GMR sensors, which can classify influenza infection based on transcript levels. We also validated the accuracy of a single biomarker in stratifying patients with influenza.
BIOSENSORS & BIOELECTRONICS
(2022)
Article
Medicine, Research & Experimental
Jordan Kho, Urszula Polak, Ming-Ming Jiang, John D. Odom, Jill V. Hunter, Saima M. Ali, Lindsay C. Burrage, Sandesh C. S. Nagamani, Robia G. Pautler, Hannah P. Thompson, Akihiko Urayama, Zixue Jin, Brendan Lee
Summary: Nitric oxide (NO) is a critical signaling molecule implicated in neurocognitive diseases. Excessive and insufficient NO production have both been linked to pathology. This study investigates the effects of NO on brain endothelial cells and the blood-brain barrier using a model of NO deficiency. The results suggest that ASL-mediated NO synthesis is necessary for maintaining brain microvascular endothelial cell functions and BBB integrity.
Article
Medicine, Research & Experimental
I-Wen Song, Sandesh Cs Nagamani, Dianne Nguyen, Ingo Grafe, Vernon Reid Sutton, Francis H. Gannon, Elda Munivez, Ming-Ming Jiang, Alyssa Tran, Maegen Wallace, Paul Esposito, Salma Musaad, Elizabeth Strudthoff, Sharon McGuire, Michele Thornton, Vinitha Shenava, Scott Rosenfeld, Shixia Huang, Roman Shypailo, Eric Orwoll, Brendan Lee
Summary: The study found that there is excessive TGF-beta signaling in patients with osteogenesis imperfecta (OI). TGF-beta signaling may be a driver pathogenic mechanism in OI. Anti-TGF-beta therapy could be a potential disease-specific therapy.
JOURNAL OF CLINICAL INVESTIGATION
(2022)
Article
Respiratory System
Justyna A. Karolak, Tomasz Gambin, Przemyslaw Szafranski, Pawel Stankiewicz
Summary: The study reveals the complexity of the transcriptional network driven by TBX2 and TBX4, demonstrating that disruption of this interaction during morphogenesis may play a significant role in the etiology of lung developmental disorders.
RESPIRATORY RESEARCH
(2021)