Article
Oncology
Wenjiao Zhu, Yuanping Shi, Changrun Zhang, Yajie Peng, Yueyue Wan, Yue Xu, Xuemeng Liu, Bing Han, Shuangxia Zhao, Yanping Kuang, Huaidong Song, Jie Qiao
Summary: The SMC5/6 complex is found to play a crucial role in maintaining genome stability, but its relationship with human diseases has not been well described. Through whole-exome sequencing and other experimental methods, a homozygous in-frame deletion of Arg372 in SMC5 was identified in an adult patient with microcephalic primordial dwarfism, chromosomal instability, and insulin resistance. Animal models, including smc5 knockout zebrafish and Smc5(K371del) knock-in mouse, were created to investigate the phenotypic characteristics and potential mechanisms. The findings suggest a link between growth disorders and metabolic homeostasis imbalance through defective cell survival and differentiation.
CLINICAL AND TRANSLATIONAL MEDICINE
(2023)
Article
Reproductive Biology
Emmalee A. Ford, Emily R. Frost, Emma L. Beckett, Shaun D. Roman, Eileen A. McLaughlin, Jessie M. Sutherland
Summary: Comparing transcriptomes of granulosa cells from primordial follicles and a mixed population enriched for granulosa cells from primary follicles, the study found increased expression of FRZB in primary granulosa cells, and identified an interaction between FRZB and the suppressor of primordial follicle activation, WNT3A.
BIOLOGY OF REPRODUCTION
(2021)
Article
Oncology
Yiran Yao, Xiang Gu, Xiaofang Xu, Shengfang Ge, Renbing Jia
Summary: This review focuses on the mechanism underlying RB1 mutation during oncogenesis, as well as potential clinical strategies for treating RB1-mutated cancers. The unsolved problems and prospects of RB1 mutation are also discussed.
Article
Plant Sciences
Benjamin Spaniol, Julia Lang, Benedikt Venn, Lara Schake, Frederik Sommer, Matthieu Mustas, Stefan Geimer, Francis-Andre Wollman, Yves Choquet, Timo Muhlhaus, Michael Schroda
Summary: The study identified the role of the LPA2 protein in the biogenesis of photosystem II (PSII) in Chlamydomonas, revealing its importance in maintaining the stability and structure of PSII. Mutations in LPA2 resulted in slower growth, hypersensitivity to high light, and aberrant thylakoid membrane structures. Complexome profiling showed alterations in PSII subunit levels and dynamics, suggesting the critical role of LPA2 in PSII assembly and stability.
JOURNAL OF EXPERIMENTAL BOTANY
(2022)
Article
Medicine, Research & Experimental
Jasmin Taubenschmid-Stowers, Michael Orthofer, Anna Laemmerer, Christian Krauditsch, Marianna Rozsova, Christian Studer, Daniela Loetsch, Johannes Gojo, Lisa Gabler, Matheus Dyczynski, Thomas Efferth, Astrid Hagelkruys, Georg Widhalm, Andreas Peyrl, Sabine Spiegl-Kreinecker, Dominic Hoepfner, Shan Bian, Walter Berger, Juergen A. Knoblich, Ulrich Elling, Moritz Horn, Josef M. Penninger
Summary: The natural compound Artemisinin is widely used as an antimalarial drug and has potential for anticancer therapy. Through screening with yeast and haploid stem cells, it has been discovered that the porphyrin biosynthesis pathway is crucial for the cytotoxicity of Artemisinin. In various human brain tumor models, a combination treatment of Artemisinin and the porphyrin enhancer 5-aminolevulinic acid sensitizes and kills brain tumor cells.
EMBO MOLECULAR MEDICINE
(2023)
Article
Biochemistry & Molecular Biology
Thu Hien Nguyen, Ngoc-Lan Nguyen, Chi Dung Vu, Can Thi Bich Ngoc, Ngoc Khanh Nguyen, Huy Hoang Nguyen
Summary: Mutations in three novel variants in the PCNT gene were identified in two Vietnamese patients with primordial dwarfism, leading to deficient protein functional activity and resulting in the disease phenotype. Clinical presentations combined with genetic analyses supported an accurate diagnosis of microcephalic osteodysplastic primordial dwarfism type II (MOPD II) in these two patients, with implications for prenatal genetic screening and genetic counseling for families.
Article
Environmental Sciences
Debaditya Chakraborty, Hakan Basagaoglu, Lilianna Gutierrez, Ali Mirchi
Summary: The study introduces an explainable artificial intelligence (XAI) framework integrated with scenario-based downscaled climate projections to investigate nonlinear hydroclimatic dependencies and interactions behind future hydrological droughts. Results show that under a warm-wet future scenario, climatic factors affecting groundwater levels, such as increased evapotranspiration, lower soil moisture, and reduced diffuse recharge, could amplify severe hydrological droughts, leading to declining groundwater levels and exacerbating groundwater sustainability challenges.
ENVIRONMENTAL RESEARCH LETTERS
(2021)
Article
Genetics & Heredity
D. Hettiarachchi, S. M. Subasinghe, G. G. Anandagoda, Hetalkumar Panchal, P. S. Lai, V. H. W. Dissanayake
Summary: We report a novel frameshift variant in the PCNT gene and describe a previously unreported phenotype for Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) Type II.
BMC MEDICAL GENOMICS
(2022)
Article
Ecology
Aurelie Labarre, David Lopez-Escard, Francisco Latorre, Guy Leonard, Francois Bucchini, Aleix Obiol, Corinne Cruaud, Michael E. Sieracki, Olivier Jaillon, Patrick Wincker, Klaas Vandepoele, Ramiro Logares, Ramon Massana
Summary: The study utilized single-cell genomics to analyze the genomes of 15 MAST species from marine surface plankton, revealing their potential for phagocytosis and ability to thrive in the photic ocean with the presence of rhodopsin genes. The complexity of phagocytosis machinery in microbial eukaryotes was highlighted, contrasting with the well-defined set of genes for photosynthesis, providing essential insights into the ecophysiology of uncultured species and the function of rhodopsins in stramenopiles.
Article
Endocrinology & Metabolism
Maddalena Petraroli, Antonio Percesepe, Maria Piane, Francesca Ormitti, Eleonora Castellone, Margherita Gnocchi, Giulia Messina, Luca Bernardi, Viviana Dora Patianna, Susanna Maria Roberta Esposito, Maria Elisabeth Street
Summary: We report the case of a 3-year-old boy with severe growth failure, intellectual disability, microcephaly, skeletal anomalies, and kidney and liver abnormalities. Genetic analysis revealed a novel homozygous pathogenic variant in the PCNT gene. The boy died at 8 years of age due to intracranial hemorrhage associated with Moyamoya malformation. Early detection of intracranial and kidney anomalies is crucial for the management of patients with microcephalic osteodysplastic primordial dwarfism type II (MOPDII).
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Junguk Hur, Ximena Paez-Colasante, Claudia Figueroa-Romero, Ting-wen Lo, Sami J. Barmada, Michelle T. Paulsen, Mats Ljungman, Fadhl M. Alakwaa, Masha G. Savelieff, Stephen A. Goutman, Eva L. Feldman
Summary: This study analyzes the miRNA profiles in patients with amyotrophic lateral sclerosis (ALS) and identifies different miRNA levels in different ALS mutation types. The study also reveals pathways related to ALS and suggests potential targets for future research. These findings contribute to the early diagnosis of ALS.
HUMAN MOLECULAR GENETICS
(2022)
Review
Biochemistry & Molecular Biology
Zhixiong Li
Summary: Mastocytosis is a myeloid neoplasm characterized by abnormal mast cell proliferation, with systemic mastocytosis being a more aggressive variant often associated with multi-organ dysfunction. The majority of SM patients carry the KIT D816V mutation.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Biochemical Research Methods
Ran Wei, Pengcheng Li, Funan He, Gang Wei, Zhan Zhou, Zhixi Su, Ting Ni
Summary: This study identified specific mutational signatures associated with alcohol consumption in head and neck cancer, esophageal cancer, and liver cancer. Acetaldehyde was identified as one of the causes of these mutational signatures, while mutations in certain dehydrogenase genes may also affect this process.
BRIEFINGS IN BIOINFORMATICS
(2021)
Article
Biochemistry & Molecular Biology
Chao Sun, Yun-Hui Xie, Zhen Li, Yan-Jing Liu, Xiao-Mei Sun, Jing-Jing Li, Wei-Peng Quan, Qing-Yin Zeng, Yves van de Peer, Shou-Gong Zhang
Summary: By using single-molecule real-time sequencing, researchers obtained a high-quality genome sequence of the Japanese larch and discovered key genes associated with adaptive evolution and wood properties.
JOURNAL OF INTEGRATIVE PLANT BIOLOGY
(2022)
Article
Genetics & Heredity
Aida M. Bertoli-Avella, Krishna K. Kandaswamy, Suliman Khan, Natalia Ordonez-Herrera, Kornelia Tripolszki, Christian Beetz, Maria Eugenia Rocha, Alize Urzi, Ronja Hotakainen, Anika Leubauer, Ruslan Al-Ali, Vasiliki Karageorgou, Oana Moldovan, Patricia Dias, Amal Alhashem, Brahim Tabarki, Mohammed A. Albalwi, Abdulrahman Faiz Alswaid, Zuhair N. Al-Hassnan, Malak Ali Alghamdi, Zahra Hadipour, Fatemeh Hadipour, Nadia Al Hashmi, Lihadh Al-Gazali, Huma Cheema, Maha S. Zaki, Irina Huning, Ahmed Alfares, Wafaa Eyaid, Fuad Al Mutairi, Majid Alfadhel, Fowzan S. Alkuraya, Nouriya Abbas Al-Sannaa, Aisha M. AlShamsi, Najim Ameziane, Arndt Rolfs, Peter Bauer
Summary: The study identified six novel gene-disease associations and supported the causality of 31 additional candidate genes with various phenotypes, including syndromic/nonsyndromic NDD/ID, oral-facial-digital syndrome, cardiomyopathies, malformation syndrome, short stature, skeletal dysplasia, and ciliary dyskinesia. The results demonstrate the value of data repositories for discovering and confirming gene-disease associations.
GENETICS IN MEDICINE
(2021)
Article
Genetics & Heredity
Paulina Bahena, Narsis Daftarian, Reza Maroofian, Paola Linares, Daniel Villalobos, Mehraban Mirrahimi, Aboulfazl Rad, Julia Doll, Michaela A. H. Hofrichter, Asuman Koparir, Tabea Roeder, Seungbin Han, Hamideh Sabbaghi, Hamid Ahmadieh, Hassan Behboudi, Cristina Villanueva-Mendoza, Vianney Cortes-Gonzalez, Rocio Zamora-Ortiz, Susanne Kohl, Laura Kuehlewein, Hossein Darvish, Elham Alehabib, Maria De la Luz Arenas-Sordo, Fatemeh Suri, Barbara Vona, Thomas Haaf
Summary: Usher syndrome, the most prevalent cause of combined hereditary vision and hearing impairment, was found to be the most common genetic factor in a group of Mexican and Iranian patients with retinal degeneration and hearing loss. However, other genetic conditions were also identified, leading to a 92% overall diagnostic yield in the study. Molecular diagnosis was deemed crucial for genetic counseling and decision-making in treatment.
Article
Biochemistry & Molecular Biology
Emanuela Piermarini, Seyma Akarsu, Theresa Connors, Matthias Kneussel, Michael A. Lane, Gerardo Morfini, Arzu Karabay, Peter W. Baas, Liang Qiang
Summary: Hereditary spastic paraplegia (HSP) is a neurodegenerative disease characterized by degeneration of corticospinal tracts and axonal swellings leading to gait deficiencies. The most common form of HSP, SPG4-HSP, is caused by mutations in the spastin gene (SPAST). This study demonstrates that crossbreeding mice with axonal swellings but no gait deficiencies and mice with gait deficiencies but no axonal swellings results in offspring with both axonal swellings and worsened gait deficiencies, providing a valuable model for studying the disease pathology and testing potential therapies for SPG4-HSP.
HUMAN MOLECULAR GENETICS
(2022)
Article
Dentistry, Oral Surgery & Medicine
Rasim Gumus, Ozel Capik, Betul Gundogdu, Arzu Tatar, Konca Altinkaynak, Ozlem Ozdemir Tozlu, Omer Faruk Karatas
Summary: This study found that vitamin D deficiency (VDD) and high cholesterol (HC) co-exist in oral squamous cell carcinoma (OSCC) patients, and their collaboration contributes to tumor formation by modulating glycolysis.
Article
Obstetrics & Gynecology
Tugba Sarac Sivrikoz, Omer Demir, Ibrahim Halil Kalelioglu, Recep Has, Ezgi Karakas Paskal, Pelin Kundakci Ozdemir, Atil Yuksel
Summary: This study compared the effects of early and late fetal reduction (FR) procedures on perinatal outcomes in multiple pregnancies reduced to twins or singletons. The results showed that reducing to twins was associated with higher rates of preterm premature rupture of membranes (PPROM) and preterm labor compared to reducing to singletons. The overall survival rate was higher in the singleton group. There were no significant differences in pregnancy course and neonatal outcomes between the early and late FR groups.
EUROPEAN JOURNAL OF OBSTETRICS & GYNECOLOGY AND REPRODUCTIVE BIOLOGY
(2022)
Article
Acoustics
Sultan Can, Recep Has, Gurcan Turkyilmaz, Fatih Aktoz, Atil Yuksel
Summary: Multiple pregnancies are associated with high perinatal mortality and morbidity. Abnormal cord insertions are more common in twin pregnancies, and velamentous cord insertion is related to poor pregnancy outcomes. This study found that intertwin membrane insertion is a novel umbilical cord insertion abnormality, and abnormal cord insertion, weight discordance, and abnormal UAD are significant predictors of FGR.
JOURNAL OF CLINICAL ULTRASOUND
(2022)
Article
Biochemistry & Molecular Biology
Ece Selcuk, Koray Kirimtay, Benan Temizci, Seyma Akarsu, Elif Everest, Mehmet Baris Baslo, Meltem Demirkiran, Zuhal Yapici, Arzu Karabay
Summary: In this study, the genetic basis of a Turkish family with hereditary spastic paraplegia (HSP) was determined using exome sequencing. A variant in the MYO1H gene was identified as a possible disease-causing deletion for HSP in this family.
MOLECULAR GENETICS AND GENOMICS
(2022)
Article
Clinical Neurology
Edibe Pembegul Yildiz, Mehmet Akif Kilic, Emek Uyur Yalcin, Fulya Kurekci, Ridvan Avci, Nilufer Eldes Hacifazlioglu, Serdar Ceylaner, Alper Gezdirici, Mine Caliskan
Summary: In this study, we retrospectively collected and analyzed clinical data from 18 patients with congenital myasthenic syndromes (CMS). The most common mutations identified in CMS patients were in the acetylcholine receptor (CHRNE) gene and choline acetyltransferase (ChAT) gene. Eyelid ptosis was the most commonly observed initial finding, and pyridostigmine was the most commonly used drug. However, caution should be exercised as pyridostigmine may worsen certain types of CMS.
ACTA NEUROLOGICA BELGICA
(2023)
Article
Medicine, General & Internal
Cuneyd Yavas, Cemal Un, Evrim Celebi, Alper Gezdirici, Mustafa Dogan, Ezgi Gokpinar Ili, Tunay Dogan, Nehir Ozdemir Ozgenturk
Summary: This study identified molecular defects in Alport syndrome (AS) and other genes in patients with clinically suspected CKD using whole-exome sequencing (WES), highlighting the importance of molecular genetic diagnosis for optimal treatment and genetic counseling in CKD patients.
REVISTA DA ASSOCIACAO MEDICA BRASILEIRA
(2022)
Article
Health Care Sciences & Services
Akif Ayaz, Sinem Yalcintepe, Ozge Ozalp, Elif Yilmaz Gulec, Alper Gezdirici, Ebru Perim Akcay, Abdullah Huseyin Koseoglu, Yavuz Sahin
Summary: This study evaluated the effect of chromosome break areas on sperm count in 16 male patients with reciprocal or Robertsonian translocation. A total of 21 chromosomal breakpoints were identified in the 11 patients with reciprocal translocations, potentially contributing to the clarification of ambiguous issues related to spermatogenesis and sperm maturation. The importance of genetic counseling in patients with translocations was also highlighted.
JOURNAL OF BASIC AND CLINICAL HEALTH SCIENCES
(2022)
Article
Genetics & Heredity
Christin S. Adamo, Aude Beyens, Alvise Schiavinato, Douglas R. Keene, Sara F. Tufa, Matthias Morgelin, Jurgen Brinckmann, Takako Sasaki, Anja Niehoff, Maren Dreiner, Lore Pottie, Laura Muino-Mosquera, Elif Yilmaz Gulec, Alper Gezdirici, Paola Braghetta, Paolo Bonaldo, Raimund Wagener, Mats Paulsson, Helen Bornaun, Riet De Rycke, Michiel De Bruyne, Femke Baeke, Walter P. Devine, Balram Gangaram, Allison Tam, Meena Balasubramanian, Sian Ellard, Sandra Moore, Sofie Symoens, Joseph Shen, Stacey Cole, Ulrike Schwarze, Kathryn W. Holmes, Susan J. Hayflick, Wojciech Wiszniewski, Sheela Nampoothiri, Elaine C. Davis, Lynn Y. Sakai, Gerhard Sengle, Bert Callewaert
Summary: EMILIN1 is a structural component of the elastic fiber network and plays a role in connecting the fibrillin microfibril scaffold and the elastin core. Loss of EMILIN1 impairs extracellular matrix deposition and LOX activity, resulting in impaired elasto-genesis, reduced collagen crosslinking, and aberrant growth factor signaling.
AMERICAN JOURNAL OF HUMAN GENETICS
(2022)
Article
Genetics & Heredity
Tugba Kalayci, Umut Altunoglu, Aytul Corbacioglu Esmer, Sahin Avci, Tugba Sarac Sivrikoz, Birsen Karaman, Ibrahim Kalelioglu, Recep Has, Zehra Oya Uyguner, Atil Yuksel, Seher Basaran, Hulya Kayserili
Summary: This study reports on 314 fetal cases with skeletal dysplasia evaluated in Istanbul, Turkey, from 2000 to 2017. The diagnostic yield reached 74.5% when combining prenatal and postmortem clinical and radiological evaluation, and 21 novel variants were identified through molecular analysis. It was found that autosomal recessive inheritance was present in 54% of the cases, and the consanguinity rate was 33% in the cohort.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2023)
Article
Genetics & Heredity
Seher Basaran, Recep Has, Ibrahim Halil Kalelioglu, Tugba Sarac Sivrikoz, Birsen Karaman, Melike Kirgiz, Tahir Dehgan, Tugba Kalayci, Bilge Ozsait Selcuk, Peter Miny, Atil Yuksel
Summary: This study evaluates the efficiency of expanded cfDNA testing for rare chromosome anomalies (RCAs) and provides further evidence that the test efficiency seems to be higher for duplications than for deletions. It also emphasizes the importance of expert ultrasound in identifying pregnancies at increased risk for chromosome anomalies, even in cases with negative cfDNA test results.
Article
Cell Biology
Benan Temizci, Seren Kucukvardar, Arzu Karabay
Summary: The microtubule-severing protein Spastin co-localizes with actin in migratory glioblastoma cells and is involved in their migration and invasion capacity. It has been discovered that Spastin interacts with the cis-trans isomerase Pin1 through binding to phosphorylated Pin1 recognition motifs in the microtubule-binding domain. This interaction guides Spastin towards actin filaments and contributes to the increased migration and invasion abilities of glioblastoma cells.
Article
Cell Biology
Enes Yagiz Akdas, Benan Temizci, Arzu Karabay
Summary: Glioblastoma multiforme (GBM) is a common brain tumor that cannot be fully cured due to its invasive nature. Investigating the molecular mechanisms of GBM migration and invasion is crucial for developing effective treatments. Cell motility and invasion are closely related to the cytoskeleton, particularly actins and tubulins. Proteins like palladin and spastin play important roles in cellular motility by regulating actin and microtubule dynamics. MicroRNAs, such as miR96 and miR182, can regulate the expression of spastin and palladin, thus affecting GBM motility. Over-expression of miR96 and miR182 inhibits GBM motility, while over-expression of spastin and palladin promotes it. Rescuing the effects of miR96 and miR182 by restoring spastin and palladin expression leads to restored motility. These findings suggest that miR96 and miR182 have potential therapeutic use in GBM treatment.
Review
Genetics & Heredity
Alper Gezdirici, Ozlem Kalaycik Sengul, Mustafa Dogan, Banu Y. Ozguven, Ekrem Akbulut
Summary: This study identified a novel USP53 splice variant causing cholestasis phenotype through whole-exome sequencing and characterized its clinical findings and biological insights. Through family segregation analysis and in silico analyses, the impact of this variant on the protein structure was confirmed.
MOLECULAR SYNDROMOLOGY
(2023)