Results 41 to 50 of about 256,625 (325)

Genetic predisposition to porto‐sinusoidal vascular disorder: A functional genomic‐based, multigenerational family study

Hepatology, EarlyView., 2022
A deleterious variant of FCHSD1 results in mTOR pathway overactivation and may cause porto‐sinusoidal vascular disorder (PSVD). The pedigree of the family demonstrated an autosomal dominant disease with variable expressivity. Whole‐genome sequencing and Sanger sequencing both validated the existence of the FCHSD1 variant and the heterozygosity of c ...
Jingxuan Shan, André Megarbane, Aziz Chouchane, Deepak Karthik, Ramzi Temanni, Atilio Reyes Romero, Huiying Hua, Chun Pan, Xixi Chen, Murugan Subramanian, Chadi Saad, Hamdi Mbarek, Cybel Mehawej, Eliane Chouery, Sirin W. Abuaqel, Alexander Dömling, Sami Remadi, Cesar Yaghi, Pu Li, Lotfi Chouchane   +19 more
wiley   +1 more source

DNA barcoding elucidates the population genetic diversity of venomous cobra species (Reptilia: Elapidae) in Indo-Bangladesh region

Mitochondrial DNA. Part B. Resources, 2020
The DNA barcode data of venomous cobra species (Naja naja and Naja kaouthia) are limited in the global database, especially from India and Bangladesh. Owing to the rapid success of DNA barcoding for discriminating a variety of species around the world ...
Shantanu Kundu, Hmar Tlawmte Lalremsanga, Md. Mizanur Rahman, Md. Farid Ahsan, Lal Biakzuala, Vikas Kumar, Kailash Chandra, A. M. A. M. Zonaed Siddiki   +7 more
doaj   +1 more source

Reference‐Guided Chromosome‐by‐Chromosome de novo Assembly at Scale Using Low‐Coverage High‐Fidelity Long‐Reads with HiFiCCL

Advanced Science, EarlyView.
HiFiCCL, as the first assembly framework specifically designed for low‐coverage high‐fidelity reads, improves the assembly quality of existing assemblers and also enhances downstream applications such as large structural variant (SV) detection (>10 000 bp), synteny analysis, pangenome graph construction, and graph‐based individual‐specific germline SVs
Zhongjun Jiang, Weihua Pan, Runtian Gao, Heng Hu, Wentao Gao, Murong Zhou, Yu‐Hang Yin, Zhipeng Qian, Shuilin Jin, Guohua Wang   +9 more
wiley   +1 more source

TOMM40 and APOC1 variants differentiate the impacts of the APOE ε4 allele on Alzheimer's disease risk across sexes, ages, and ancestries

Alzheimer’s & Dementia: Diagnosis, Assessment & Disease Monitoring
INTRODUCTION The variability in apolipoprotein E (APOE) ε4‐attributed susceptibility to Alzheimer's disease (AD) across ancestries, sexes, and ages may stem from the modulating effects of other genetic variants.
Alexander M. Kulminski, Ethan Jain‐Washburn, Ian Philipp, Yury Loika, Elena Loiko, Irina Culminskaya   +5 more
doaj   +1 more source

Association of HLA Genotype and Fulminant Type 1 Diabetes in Koreans [PDF]

Genomics & Informatics, 2015
Fulminant type 1 diabetes (T1DM) is a distinct subtype of T1DM that is characterized by rapid onset hyperglycemia, ketoacidosis, absolute insulin deficiency, and near normal levels of glycated hemoglobin at initial presentation.
Soo Heon Kwak, Yoon Ji Kim, Jeesoo Chae, Cue Hyunkyu Lee, Buhm Han, Jong-Il Kim, Hye Seung Jung, Young Min Cho, Kyong Soo Park   +8 more
doaj   +1 more source

Low genetic but high morphological variation over more than 1000 km coastline refutes omnipresence of cryptic diversity in marine nematodes [PDF]

, 2017
Background: The resilience of ecosystems to negative impacts is generally higher when high gene flow, species diversity and genetic diversity are present.
Apolonio Silva de Oliveira, Daniel, Decraemer, Wilfrida, Derycke, Sofie, dos Santos, Giovanni Amadeu Paiva, Moens, Tom   +4 more
core   +2 more sources

Modern and Ancient Genomes Reveal Neolithic Paternal Expansions of Millet and Rice Farmers and Demic Diffusion from China into Mainland Southeast Asia

Advanced Science, EarlyView.
This study clarifies the genetic patterns of paternal lineages across East Asia and Mainland Southeast Asia. Han populations are relatively homogeneous, whereas southern ethnolinguistic minorities display regional structures. Shared Y‐chromosome lineages indicate Neolithic expansions and extensive north‐south gene flow, supporting demic diffusion ...
Yunhui Liu, Lintao Luo, Yutong Jiang, Minzhu Zhao, Ting Yang, Zhiyong Wang, Lisiteng Luo, Yuhang Feng, Zihao Zhu, Yuzhu Wang, Limei Zhang, Bofeng Zhu, Chao Liu, Renkuan Tang, Mengge Wang, Guanglin He   +15 more
wiley   +1 more source

Frecuencias alélicas, genotípicas y haplotípicas HLA-A, HLA-B, HLA-DRB1 en donantes fallecidos, Medellín, Colombia

Biomédica: revista del Instituto Nacional de Salud, 2007
Introducción. La caracterización genética del sistema HLA es de gran utilidad en estudios antropogenéticos, en la comprensión de mecanismos asociados a susceptibilidad o resistencia a diversas enfermedades, en los fenómenos inmunológicos durante el ...
Libia M. Rodríguez, Mabel C. Giraldo, Natalia García, Laura Velásquez, Sara C. París, Cristiam M. Álvarez, Luis F. García   +6 more
doaj   +1 more source

Disease progression in Plasmodium knowlesi malaria is linked to variation in invasion gene family members. [PDF]

, 2014
Emerging pathogens undermine initiatives to control the global health impact of infectious diseases. Zoonotic malaria is no exception. Plasmodium knowlesi, a malaria parasite of Southeast Asian macaques, has entered the human population. P.
A Berry, AA Semenya, AK Bei, Angela Siner, Atique M. Ahmed, B Singh, B Singh, Balbir Singh, BE Barber, BE Barber, C Aurrecoechea, C Daneshvar, Chan Woon Lu, CV Jennings, EV Meyer, G Butcher, G Snounou, H Ozwara, Ing Tien Wong, J Cox-Singh, J Cox-Singh, J Cox-Singh, J Cox-Singh, J Langhorne, J Li, J Rayner, Janet Cox-Singh, JC Barrett, JC Rayner, JC Rayner, JP Cramer, JW Barnwell, K Gunalan, K Hayton, Kenji Hirayama, KS Lee, L Excoffier, LH Bannister, LH Miller, LH Miller, M Willmann, MAM Sallum, Matthias Willmann, Miguel M. Pinheiro, MR Galinski, MR Galinski, N Gomez-Escobar, P Librado, Paul C. Divis, Ramlah Zainudin, RW Moon, S Kumar, S Lopaticki, S Nakazawa, Sanjeev Krishna, Sarina K. Singh-Khaira, Scott B. Millar, Sean Lynch, SL Takala, T William, TM DeSimone, WH Tham   +61 more
core   +3 more sources

TOGR3, a Proteasome β4 Subunit, Orchestrates Sugar Homeostasis to Trade Off Growth and Thermotolerance in Rice

Advanced Science, EarlyView.
This study identifies a novel thermoregulatory mechanism in rice: TOGR3 partners with 26S proteasome subunits, including TT1, to drive thermoresponsive ubiquitin–proteasome activity, maintaining sugar homeostasis in stomatal regulation to balance growth and stress resistance.
Biyao Zhang, Xiaoyan Wu, Ting Xu, Feifei Guo, Xiaolu Shen, Cuiping Meng, Yanan Wang, Xue Han, Hong Zhao, Yongbiao Xue   +9 more
wiley   +1 more source