Article
Ecology
Dave R. Clark, Graham J. C. Underwood, Terry J. McGenity, Alex J. Dumbrell
Summary: The study found that ecological and methodological factors significantly impact the strength of microbial distance-decay relationships. Soils showed significantly weaker distance-decay relationships compared to other habitats, while sequencing depth and choice of dissimilarity metric also influenced the strength of these relationships.
GLOBAL ECOLOGY AND BIOGEOGRAPHY
(2021)
Article
Genetics & Heredity
Huamei Hu, Rong Zhang, Yongyi Ma, Yanmei Luo, Yan Pan, Juchun Xu, Lupin Jiang, Dan Wang
Summary: This study conducted a retrospective analysis on seven pedigrees with 21q21.1-q21.2 aberrations. It was found that carriers of 21q21.1-q21.2 duplications showed no clinical consequences based on their phenotypes, and the deletion of 21q21.1-q21.2 was transmitted through three generations of normal individuals. This provides benign clinical evidence for the pathogenic assessment of 21q21.1-q21.2 duplication and deletion.
FRONTIERS IN GENETICS
(2021)
Article
Genetics & Heredity
Floris Huider, Yuri Milaneschi, Matthijs D. Van der Zee, Eco J. C. De Geus, Quinta Helmer, Brenda W. J. H. Penninx, Dorret I. Boomsma
Summary: Through bivariate genetic analysis in extended twin pedigree data, genetic correlations were found between major depressive disorder and three lifestyle indicators (smoking behavior, physical inactivity, and obesity), indicating shared genetic etiology between MDD and lifestyle factors.
Article
Biochemistry & Molecular Biology
Scott C. Fears, Susan K. Service, Barbara Kremeyer, Carmen Araya, Xinia Araya, Julio Bejarano, Margarita Ramirez, Gabriel Castrillon, Juliana Gomez-Franco, Maria C. Lopez, Gabriel Montoya, Patricia Montoya, Ileana Aldana, Terri M. Teshiba, Noor B. Al-Sharif, Maria Jalbrzikowski, Todd A. Tishler, Javier Escobar, Andres Ruiz-Linares, Carlos Lopez-Jaramillo, Gabriel Macaya, Julio Molina, Victor Reus, Rita M. Cantor, Chiara Sabatti, Nelson B. Freimer, Carrie E. Bearden
Summary: Bipolar disorder is highly heritable and associated with brain structure alterations. Studies in genetically isolated populations in Latin America have shown that genes may play a significant role in differences in brain morphology related to bipolar disorder.
MOLECULAR PSYCHIATRY
(2021)
Article
Genetics & Heredity
Caoqi Fan, Nicholas Mancuso, Charleston W. K. Chiang
Summary: A new method for estimating genetic relationship matrix (eGRM) is proposed, which better captures population structure by considering genealogical history, and reveals the time-varying nature of population structure in a sample.
AMERICAN JOURNAL OF HUMAN GENETICS
(2022)
Article
Plant Sciences
Nianxun Xi, Peter B. Adler, Dongxia Chen, Hangyu Wu, Jane A. Catford, Peter M. van Bodegom, Michael Bahn, Kerri M. Crawford, Chengjin Chu
Summary: Plant-soil feedbacks and functional traits are influenced by life-history evolution, and are theoretically related. Faster-growing species with greater SLA, LNC, and SRL have more negative individual PSF values, supporting the growth-defence trade-off hypothesis. Plant height may be positively correlated with individual PSF, and larger-seeded species exhibit more positive or less negative PSF, likely reflecting greater tolerance of soil pathogens.
JOURNAL OF ECOLOGY
(2021)
Article
Neurosciences
Emma E. M. Knowles, Juan M. Peralta, Laura Almasy, Vishwajit Nimgaonkar, Francis J. McMahon, Andrew M. McIntosh, Pippa Thomson, Samuel R. Mathias, Ruben C. Gur, Joanne E. Curran, Henriette Raventos, Javier Contreras, Assen Jablensky, Johanna Badcock, John Blangero, Raquel E. Gur, David C. Glahn
Summary: The study found significant genetic overlap between psychotic disorders and cognitive measures, while the genetic overlap between bipolar disorder and cognition is specific to different ascertainment strategies and ethnicities. Patients with affective disorders show enhanced performance in working and face memory.
BIOLOGICAL PSYCHIATRY
(2021)
Article
Chemistry, Applied
Nerineia Dalfollo Ribeiro, Guilherme Godoy dos Santos, Sandra Maria Maziero, Greice Godoy dos Santos
Summary: This study evaluated the genetic variability and correlations of common bean landraces and modern cultivars, investigated the genetic dissimilarity between cultivars, and selected superior common bean cultivars for human nutrition. The analysis identified important traits for differentiation among cultivars and suggested specific cultivars with high technological quality and concentrations of minerals for human nutrition and breeding programs.
JOURNAL OF FOOD COMPOSITION AND ANALYSIS
(2021)
Article
Biology
Lei Xie, Yuan Yang, Yao Li, Shuifei Chen, Yueyao Feng, Ningjie Wang, Ting Lv, Hui Ding, Lu Wang, Yanming Fang
Summary: Understanding species and genetic correlations is crucial for determining community composition. A global meta-analysis of 295 observations from 39 studies revealed a positive correlation between genetic diversity and species diversity. The study also highlighted the importance of protecting species diversity in conservation practices, especially in the face of global temperature increases in the 21st century.
Article
Genetics & Heredity
Ali Raza Rao, Aamir Nazir, Samina Imtiaz, Sohail Aziz Paracha, Yar Muhammad Waryah, Ikram Din Ujjan, Ijaz Anwar, Afia Iqbal, Federico A. Santoni, Inayat Shah, Khitab Gul, Hafiz Muhammad Azhar Baig, Ali Muhammad Waryah, Stylianos E. Antonarakis, Muhammad Ansar
Summary: This study aimed to identify the molecular basis of Bardet-Biedl syndrome (BBS) in Pakistani consanguineous families. Whole exome sequencing was performed on 12 affected families, and 9 pathogenic variants in six genes associated with BBS were identified. The most common causative gene was BBS6/MKS, and the clinical differences among patients carrying the same pathogenic variant may be due to other modifier genes.
Article
Genetics & Heredity
Akiko Suga, Kazutoshi Yoshitake, Naoko Minematsu, Kazushige Tsunoda, Kaoru Fujinami, Yozo Miyake, Kazuki Kuniyoshi, Takaaki Hayashi, Kei Mizobuchi, Shinji Ueno, Hiroko Terasaki, Taro Kominami, Nobuhisa Nao-I, Go Mawatari, Atsushi Mizota, Kei Shinoda, Mineo Kondo, Kumiko Kato, Tetsuju Sekiryu, Makoto Nakamura, Sentaro Kusuhara, Hiroyuki Yamamoto, Shuji Yamamoto, Kiyofumi Mochizuki, Hiroyuki Kondo, Itsuka Matsushita, Shuhei Kameya, Takeo Fukuchi, Tetsuhisa Hatase, Masayuki Horiguchi, Yoshiaki Shimada, Atsuhiro Tanikawa, Shuichi Yamamoto, Gen Miura, Nana Ito, Akira Murakami, Takuro Fujimaki, Yoshihiro Hotta, Koji Tanaka, Takeshi Iwata
Summary: This study identified 67 causal genes in 1210 IRD pedigrees through genetic characterization and whole exome sequencing, and found associations between common phenotypes and mutated genes.
Article
Pediatrics
Peng Huang, Lu Zhang, Li Tang, Yi Ren, Hong Peng, Jie Xiong, Lingjuan Liu, Jie Xu, Yangyang Xiao, Jian Li, Dingan Mao, Liqun Liu
Summary: This study investigated the clinical and genetic characteristics of five pediatric patients with ataxia-telangiectasia (AT) from three pedigrees in China. The findings revealed that AT patients can present with various clinical symptoms, including dystonia as a non-typical manifestation, and identified three novel pathogenic variants of the ATM gene.
FRONTIERS IN PEDIATRICS
(2022)
Article
Dermatology
Yueqian Yu, Zhenzhen Wang, Zihao Mi, Lele Sun, Xi'an Fu, Gongqi Yu, Zheng Pang, Hong Liu, Furen Zhang
Summary: This study identified 52 pathogenic mutations in a large cohort of Chinese patients with epidermolysis bullosa using whole-exome sequencing, revealing the relationship between different subtypes and pathogenic genes. The results support whole-exome sequencing as a promising tool in the genetic diagnosis of epidermolysis bullosa.
ACTA DERMATO-VENEREOLOGICA
(2021)
Article
Plant Sciences
Oyenike A. Adeyemo, Omodolapo O. Ayodele, Micheal O. Ajisafe, Uzezi Elizabeth Okinedo, Daniel O. Adeoye, Abraham B. Afanou, Faridh A. Akinsemoyin, Oreoluwa O. Ogunjobi, Olamilekan J. Kasali, Ekene E. Chukwudiri
Summary: This study examines the genetic diversity and intra-specific relationships among 16 cultivated jute mallows, revealing moderate to high variation in traits such as number of pods, pod yield, and plant height. Using quantitative trait analysis and SSR markers, the cultivars are divided into two main groups and an outgroup, with distinctive differences observed between Ghana/Togo cultivars and those from Nigeria.
SOUTH AFRICAN JOURNAL OF BOTANY
(2021)
Article
Biochemistry & Molecular Biology
Kirk A. J. Stephenson, Julia Zhu, Adrian Dockery, Laura Whelan, Tomas Burke, Jacqueline Turner, James J. O'Byrne, G. Jane Farrar, David J. Keegan
Summary: Inherited retinal degenerations (IRDs) are a common cause of blindness in the working age population. Genetic testing plays a crucial role in diagnosing IRDs, with first-tier panel-based next-generation sequencing having a high success rate. This study demonstrates the reassessment of patients with negative results from first-tier testing and the effectiveness of second-tier genetic testing methods. By utilizing appropriate genetic testing techniques, the overall resolution rate of previously unresolved cases was increased to 92%. First-tier testing remains the most cost-effective approach, and second-tier testing should be guided by clinical and genetic indications to achieve a genetic diagnosis in a cost-effective manner.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Letter
Ophthalmology
Chelsea E. Myers, Barbara E. K. Klein, Ronald Klein
AMERICAN JOURNAL OF OPHTHALMOLOGY
(2015)
Editorial Material
Endocrinology & Metabolism
Barbara E. K. Klein, Ronald Klein
Letter
Ophthalmology
Stacy M. Meuer, Barbara E. K. Klein, Chelsea E. Myers, Ronald Klein
Article
Ophthalmology
Diana E. Fisher, Fridbert Jonasson, Gudny Eiriksdottir, Sigurdur Sigurdsson, Ronald Klein, Lenore J. Launer, Vilmundur Gudnason, Mary Frances Cotch
Article
Ophthalmology
Stacy M. Meuer, Chelsea E. Myers, Barbara E. K. Klein, Maria K. Swift, Yijun Huang, Sapna Gangaputra, Jeong W. Pak, Ronald P. Danis, Ronald Klein
Article
Ophthalmology
Farzana Choudhury, Stacy M. Meuer, Ronald Klein, Dandan Wang, Mina Torres, Xuejuan Jiang, Roberta Mckean-Cowdin, Rohit Varma
AMERICAN JOURNAL OF OPHTHALMOLOGY
(2018)
Article
Ophthalmology
Ronald Klein, Kristine E. Lee, Lorraine Danforth, Michael Y. Tsai, Ronald E. Gangnon, Stacy E. Meuer, Tien Y. Wong, Carol Y. Cheung, Barbara E. K. Klein
Article
Ophthalmology
Ronald Klein, Chelsea E. Myers, Gabrielle H. S. Buitendijk, Elena Rochtchina, Xiaoyi Gao, Paulus T. V. M. de Jong, Theru A. Sivakumaran, George Burlutsky, Roberta McKean-Cowdin, Albert Hofman, Sudha K. Iyengar, Kristine E. Lee, Bruno H. Stricker, Johannes R. Vingerling, Paul Mitchell, Barbara E. K. Klein, Caroline C. W. Klaver, Jie Jin Wang
AMERICAN JOURNAL OF OPHTHALMOLOGY
(2014)
Article
Endocrinology & Metabolism
Tamara J. LeCaire, Barbara E. K. Klein, Kerri P. Howard, Kristine E. Lee, Ronald Klein
Article
Endocrinology & Metabolism
Nasrin Azad, Lily Agrawal, Nicholas V. Emanuele, Ronald Klein, Gideon D. Bahn, Madeline McCarren, Peter Reaven, Rodney Hayward, William Duckworth
Article
Multidisciplinary Sciences
Antonio B. Fernandez, Kevin D. Ballard, Tien Y. Wong, Mengye Guo, Robyn L. McClelland, Gregory Burke, Mary Frances Cotch, Barbara Klein, Matthew Allison, Ronald Klein
Article
Ophthalmology
Ronald Klein, Kristine E. Lee, Michael Y. Tsai, Karen J. Cruickshanks, Ronald E. Gangnon, Barbara E. K. Klein
Article
Rheumatology
Helgi Jonsson, Diana E. Fisher, Gudny Eiriksdottir, Thor Aspelund, Ronald Klein, Vilmundur Gudnason, Mary Frances Cotch
RHEUMATOLOGY INTERNATIONAL
(2019)
Article
Medicine, General & Internal
William Jones Dartora, Marcelo Krieger Maestri, Maria Ines Schmidt, Bruce Bartholow Duncan, Lloyd Chambless, Ronald Klein, Stacy Meuer, Vivian Cristine Luft
SAO PAULO MEDICAL JOURNAL
(2018)
Letter
Endocrinology & Metabolism
Ronald Klein, Kayla Horak, Kristine E. Lee, Lorraine Danforth, Karen J. Cruickshanks, Michael Y. Tsai, Ronald E. Gangnon, Barbara E. K. Klein