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Genetics & Heredity
Umut Altunoglu, Esra Borklu, Anju Shukla, Nathalie Escande-Beillard, Susanne Ledig, Hulya Azakli, Shalini S. Nayak, Serpil Eraslan, Katta Mohan Girisha, Ingo Kennerknecht, Hulya Kayserili
Summary: Homozygous variants in PPP2R3C gene can cause a syndromic 46,XY complete gonadal dysgenesis phenotype, while heterozygous variants may lead to reduced fertility in males. The study described patients from Turkish and Indian descent, including both 46,XX and 46,XY affected individuals displaying various external genital phenotypes.
Article
Genetics & Heredity
Amy B. Wilfert, Tychele N. Turner, Shwetha C. Murali, PingHsun Hsieh, Arvis Sulovari, Tianyun Wang, Bradley P. Coe, Hui Guo, Kendra Hoekzema, Trygve E. Bakken, Lara H. Winterkorn, Uday S. Evani, Marta Byrska-Bishop, Rachel K. Earl, Raphael A. Bernier, Michael C. Zody, Evan E. Eichler
Summary: Whole-genome sequencing data from 3,474 families revealed an excess of private, likely gene-disrupting variants in individuals with autism, which are under purifying selection. The study identified candidate genes not previously associated with autism and highlighted the importance of ultra-rare variants in autism risk. Private LGD variants were found to be significantly younger and act on a distinct set of genes, supporting a multi-hit model for autism.
Article
Veterinary Sciences
Rebecca Schwartz, Nicole J. Sugai, Kristin Eden, Caitlin Castaneda, Matthew Jevit, Terje Raudsepp, Julie T. Cecere
Summary: This is a case report of a 10-year-old Chinese Crested dog with symptoms of vulvar swelling, vaginal discharge, and acyclicity. Histopathologic evaluation revealed abnormal testes and chimerism in blood cells. Surgery was successful in treating the patient.
FRONTIERS IN VETERINARY SCIENCE
(2022)
Article
Veterinary Sciences
Scarlett M. Sumner, J. Brad Case, Penny J. Regier, Aitor Gallastegui, Lilian Oliveira, Jeffrey R. Abbott
Summary: A 1-year-old Great Dane was referred for evaluation of abnormal and underdeveloped internal reproductive organs, which were found to be rudimentary testicles. The dog underwent laparoscopic gonadectomy, recovered without complications, and histologic examination confirmed the removed gonads were testicular tissue.
JAVMA-JOURNAL OF THE AMERICAN VETERINARY MEDICAL ASSOCIATION
(2021)
Article
Developmental Biology
Zilong Cao, Liqiang Liu, Zhaoyun Bu, Zhe Yang, Yangqun Li, Rui Li
Summary: This study aimed to understand the pathogenesis of 46,XY disorders of sexual development (46,XY, DSD) and summarize the key pathogenic genes. Potential pathogenic genes were identified from public data and bioinformatics was used for prediction. The hub genes predicted were validated through genetic sequencing. The results suggest that 46,XY, DSD is associated with multiple genes and bioinformatics analysis can aid in predicting key genes and identifying core network models.
REPRODUCTION FERTILITY AND DEVELOPMENT
(2023)
Article
Genetics & Heredity
Shuuji Mawaribuchi, Michihiko Ito, Mitsuaki Ogata, Yuri Yoshimura, Ikuo Miura
Summary: This study compares the sex chromosome systems in the frog Glandirana rugosa and finds similarities and differences in gene expression and mutation between the XY and ZW systems. The evolutionary history of these sex chromosomes reflects different steps and shows expression differences favoring heterogametic sex. The study reveals the genetic characteristics and evolutionary mechanisms of sex chromosome systems in frogs.
Review
Medicine, General & Internal
Tsai-Hsuan Yang, Eugene Yu-Chuan Kang, Pei-Hsuan Lin, Pei-Liang Wu, Jacob Aaron Sachs, Nan-Kai Wang
Summary: Inherited retinal dystrophies are a group of diseases caused by genetic mutations that affect specific cells in the retina. Electroretinography is a diagnostic tool that measures retinal electrical activity and can assist in determining cell function. Certain types of IRDs have unique ERG features that can guide genetic testing and reduce costs.
Article
Dentistry, Oral Surgery & Medicine
Jennifer Tsi Gerber, Katheleen Miranda dos Santos, Bruna Karas Brum, Maria Fernanda Pivetta Petinati, Michelle Nascimento Meger, Delson Joao da Costa, Mohammed Elsalanty, Erika Calvano Kuchler, Rafaela Scariot
Summary: The study identified associations between genetic polymorphisms and variations in permanent tooth size, suggesting a potential role of these genes in dental morphology.
CLINICAL ORAL INVESTIGATIONS
(2021)
Article
Biochemistry & Molecular Biology
Sara Mercurio, Giorgia Pozzolini, Roberta Baldi, Sara E. Barila, Mattia Pitasi, Orazio Catona, Romina D'Aurizio, Silvia K. Nicolis
Summary: New sequencing technologies have revealed the regulatory roles of DNA sequence variants in neurodevelopmental disorders. By generating genome-wide long-range interaction maps, it is possible to identify enhancer-gene connections that are far from the nearest promoter and associate these with DNA sequence variants linked to NDD. This approach not only confirms known disease-causing genes, but also identifies new candidate genes that were previously unknown.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Clinical Neurology
Claire Franklin, Donard S. Dwyer
Summary: The study found that BPD risk genes are highly conserved across species, enriched for essential genes and those associated with lethality, and exhibit significantly increased gene-gene interactions. Additionally, the identification of syntenic blocks may provide insights into molecular pathways and related diseases associated with BPD.
Review
Genetics & Heredity
Giovanna Civitate Bastos, Giovanna Cantini Tolezano, Ana Cristina Victorino Krepischi
Summary: Macrocephaly often occurs in single-gene disorders affecting the PI3K-AKT-MTOR pathway, but epigenetic mutations, mosaicism, and copy number variations (CNVs) are also relevant causative factors. By studying CNVs and genomic loci, candidate genes and genomic regions linked to macrocephaly can be identified.
Article
Behavioral Sciences
Jordi Pijuan, Juan Dario Ortigoza-Escobar, Juan Ortiz, Adrian Alcala, Maria Jose Calvo, Mariona Cubells, Cristina Hernando-Davalillo, Francesc Palau, Janet Hoenicka
Summary: Genomic analysis and experimental functional studies identified PLXNA2 and LRRC40 as ASD candidate genes in a complex ASD patient, revealing a novel interaction between their proteins in a common neural network. These findings provide new insights for the pathogenesis of ASD and suggest further investigation of these genes in patients with neurodevelopmental disorders, particularly ASD.
Article
Genetics & Heredity
Yan-Ran Sheng, Shun-Yu Hou, Wen-Ting Hu, Chun-Yan Wei, Yu-Kai Liu, Yu-Yin Liu, Lu Jiang, Jing-Jing Xiang, Xiao-Xi Sun, Cai-Xia Lei, Hui-Ling Wang, Xiao-Yong Zhu
Summary: The study found significant differences in the incidence and distribution of chromosomal abnormalities between patients with recurrent pregnancy loss and sporadic abortion, with chromosomal abnormalities potentially being associated with recurrent pregnancy loss. In addition, submicroscopic copy-number variations also play an important role in these cases.
Article
Genetics & Heredity
Rameen Shakur, Juan Pablo Ochoa, Alan J. Robinson, Abhishek Niroula, Aneesh Chandran, Taufiq Rahman, Mauno Vihinen, Lorenzo Monserrat
Summary: This study investigated the impact of troponin T variations on the thin filament complex using an unbiased systems biology method, and integrated clinical data to identify specific regions associated with cardiovascular risks. The findings suggest that variations in certain regions are linked to different outcomes, such as sudden cardiac death or heart failure, highlighting the importance of genotype-clinical data integration for risk stratification in patients with familial cardiomyopathy.
NPJ GENOMIC MEDICINE
(2021)
Article
Neurosciences
Yi Zhang, Tao Wang, Yan Wang, Kun Xia, Jinchen Li, Zhongsheng Sun
Summary: This study conducted genetic sequencing on 1102 Chinese patients with NDDs, identifying novel gene variants and prioritizing 212 candidate genes for further validation and genetic counseling. The interactions between these novel candidate genes and known genes form a functional network involved in known pathways.
MOLECULAR NEUROBIOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Kelly M. McGarvey, Tamara Goldfarb, Eric Cox, Catherine M. Farrell, Tripti Gupta, Vinita S. Joardar, Vamsi K. Kodali, Michael R. Murphy, Nuala A. O'Leary, Shashikant Pujar, Bhanu Rajput, Sanjida H. Rangwala, Lillian D. Riddick, David Webb, Mathew W. Wright, Terence D. Murphy, Kim D. Pruitt
Article
Biochemistry & Molecular Biology
Nuala A. O'Leary, Mathew W. Wright, J. Rodney Brister, Stacy Ciufo, Diana Haddad Rich McVeigh, Bhanu Rajput, Barbara Robbertse, Brian Smith-White, Danso Ako-Adjei, Alexander Astashyn, Azat Badretdin, Yiming Bao, Olga Blinkova, Vyacheslav Brover, Vyacheslav Chetvernin, Jinna Choi, Eric Cox, Olga Ermolaeva, Catherine M. Farrell, Tamara Goldfarb, Tripti Gupta, Daniel Haft, Eneida Hatcher, Wratko Hlavina, Vinita S. Joardar, Vamsi K. Kodali, Wenjun Li, Donna Maglott, Patrick Masterson, Kelly M. McGarvey, Michael R. Murphy, Kathleen O'Neill, Shashikant Pujar, Sanjida H. Rangwala, Daniel Rausch, Lillian D. Riddick, Conrad Schoch, Andrei Shkeda, Susan S. Storz, Hanzhen Sun, Francoise Thibaud-Nissen, Igor Tolstoy, Raymond E. Tully, Anjana R. Vatsan, Craig Wallin, David Webb, Wendy Wu, Melissa J. Landrum, Avi Kimchi, Tatiana Tatusova, Michael DiCuccio, Paul Kitts, Terence D. Murphy, Kim D. Pruitt
NUCLEIC ACIDS RESEARCH
(2016)
Article
Biochemistry & Molecular Biology
Shashikant Pujar, Nuala A. O'Leary, Catherine M. Farrell, Jane E. Loveland, Jonathan M. Mudge, Craig Wallin, Carlos G. Giron, Mark Diekhans, If Barnes, Ruth Bennett, Andrew E. Berry, Eric Cox, Claire Davidson, Tamara Goldfarb, Jose M. Gonzalez, Toby Hunt, John Jackson, Vinita Joardar, Mike P. Kay, Vamsi K. Kodali, Fergal J. Martin, Monica McAndrews, Kelly M. McGarvey, Michael Murphy, Bhanu Rajput, Sanjida H. Rangwala, Lillian D. Riddick, Ruth L. Seal, Marie-Marthe Suner, David Webb, Sophia Zhu, Bronwen L. Aken, Elspeth A. Bruford, Carol J. Bult, Adam Frankish, Terence Murphy, Kim D. Pruitt
NUCLEIC ACIDS RESEARCH
(2018)
Article
Multidisciplinary Sciences
Vicki N. Meyers-Wallen, Adam R. Boyko, Charles G. Danko, Jennifer K. Grenier, Jason G. Mezey, Jessica J. Hayward, Laura M. Shannon, Chuan Gao, Afrah Shafquat, Edward J. Rice, Shashikant Pujar, Stefanie Eggers, Thomas Ohnesorg, Andrew H. Sinclair
Article
Multidisciplinary Sciences
Pierre Balmer, Anina Bauer, Shashikant Pujar, Kelly M. McGarvey, Monika Welle, Arnaud Galichet, Eliane J. Mueller, Kim D. Pruitt, Tosso Leeb, Vidhya Jagannathan
Article
Multidisciplinary Sciences
Joannella Morales, Shashikant Pujar, Jane E. Loveland, Alex Astashyn, Ruth Bennett, Andrew Berry, Eric Cox, Claire Davidson, Olga Ermolaeva, Catherine M. Farrell, Reham Fatima, Laurent Gil, Tamara Goldfarb, Jose M. Gonzalez, Diana Haddad, Matthew Hardy, Toby Hunt, John Jackson, Vinita S. Joardar, Michael Kay, Vamsi K. Kodali, Kelly M. McGarvey, Aoife McMahon, Jonathan M. Mudge, Daniel N. Murphy, Michael R. Murphy, Bhanu Rajput, Sanjida H. Rangwala, Lillian D. Riddick, Francoise Thibaud-Nissen, Glen Threadgold, Anjana R. Vatsan, Craig Wallin, David Webb, Paul Flicek, Ewan Birney, Kim D. Pruitt, Adam Frankish, Fiona Cunningham, Terence D. Murphy
Summary: Comprehensive genome annotation is crucial for understanding clinically relevant variants, but the lack of standardized reporting and browser display complicates interpretation and reporting. To address this, Ensembl/GENCODE and RefSeq launched the MATCHED Annotation from NCBI and EMBL-EBI (MANE) collaboration to define universal standards for variant reporting and browser display. The MANE transcript sets provide representative transcripts for each human protein-coding gene, improving consistency and facilitating clinical interpretation.
Article
Biochemistry & Molecular Biology
Eric W. Sayers, Evan E. Bolton, J. Rodney Brister, Kathi Canese, Jessica Chan, Donald C. Comeau, Catherine M. Farrell, Michael Feldgarden, Anna M. Fine, Kathryn Funk, Eneida Hatcher, Sivakumar Kannan, Christopher Kelly, Sunghwan Kim, William Klimke, Melissa J. Landrum, Stacy Lathrop, Zhiyong Lu, Thomas L. Madden, Adriana Malheiro, Aron Marchler-Bauer, Terence D. Murphy, Lon Phan, Shashikant Pujar, Sanjida H. Rangwala, Valerie A. Schneider, Tony Tse, Jiyao Wang, Jian Ye, Barton W. Trawick, Kim D. Pruitt, Stephen T. Sherry
Summary: The National Center for Biotechnology Information (NCBI) provides online information resources for biology, including the GenBank nucleic acid sequence database and the PubMed database of citations and abstracts published in life science journals. NCBI offers search and retrieval operations through 35 distinct databases, most of which are accessed through the E-utilities programming interface. Recent additions to the resources include the Comparative Genome Resource (CGR) and the BLAST ClusteredNR database. Significant updates have been made to resources such as PubMed, PMC, Bookshelf, IgBLAST, GDV, and RefSeq in the past year.
NUCLEIC ACIDS RESEARCH
(2023)
Article
Evolutionary Biology
K Kothapalli, E Kirkness, S Pujar, R Van Wormer, VN Meyers-Wallen
JOURNAL OF HEREDITY
(2005)
Article
Evolutionary Biology
S Pujar, KS Kothapalli, E Kirkness, RH Van Wormer, VN Meyers-Wallen
JOURNAL OF HEREDITY
(2005)
Article
Biochemistry & Molecular Biology
S Pujar, SA Tamhankar, VS Gupta, VS Rao, PK Ranjekar
BIOCHEMICAL GENETICS
(2002)