Results 11 to 20 of about 14,133 (214)

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Paternal Circadian Disruption Impairs Offspring Cognition via Sperm microRNAs

Advanced Science, EarlyView.
Paternal circadian disruption remodels the sperm small RNA payload, elevating miR‐92a‐3p/miR‐25‐3p levels and perturbing early embryonic gene regulatory programs. Microinjection experiments and single‐embryo transcriptomics reveal sex‐specific developmental vulnerabilities, ultimately impairing offspring hippocampal synaptic plasticity and cognition ...
Kexin Zou, Sisi Luo, Binliang Tang, Zhiqiang Liu, Yuchuan Zhou, Yicong Meng, Zhengmu Wu, Zheng Sun, Weihui Shi, Jianzhong Sheng, Chuanjin Yu, Zhenhua Li, Siyi Wei, Mo Zhang, Yujie Luo, Jing Yan, Xueyun Qin, Jiahang Mo, Chengliang Zhou, Jinsong Li, Hefeng Huang, Yifu Ding, Guolian Ding   +22 more
wiley   +1 more source

Cis‐ and Trans‐Regulatory Factors Independently Shape Phenotypic Heterogeneity of Retinitis Pigmentosa

Advanced Science, EarlyView.
A zebrafish model carrying an identical human RHO S334X allele reveals two independent genetic layers shaping retinitis pigmentosa (RP) severity: a protective 3‐bp cis‐regulatory insertion that attenuates transgene expression, and a dominant trans‐acting modifier that restores a severe phenotype.
Cong Cui, Kotone Nakagawa, Takumi Tateno, Ayaka Dan, Dexin Meng, Yoshihiro Omori, Soma Tomihara, Suzuri Okamoto, Shigeru Sato, Motokazu Tsujikawa   +9 more
wiley   +1 more source

Adult Sex Ratio as a Demographic Feedback Linking Mating Systems, Parental Care, and Evolution

Advanced Science, EarlyView.
Breeding systems are some of the most diverse social behavior, and our team is investigation the evolutionary causes of this diversity. This review summarises our research carried out at the University of Bath. We argue that demographic components of wild populations, especially the adult sex ratio, plays a key role driving breeding system variation ...
Tamás Székely, Oscar G. Miranda
wiley   +1 more source

Trained Memory of Uterine Macrophages Improves Subsequent Pregnancy Outcomes

Advanced Science, EarlyView.
This study identifies that pregnancy imprints a durable, pregnancy‐specific form of trained immune memory in uterine macrophages, marked by the emergence of LILRB3+/PIR‐B+ cells that expand across gestations, acquire a tolerogenic and metabolically rewired phenotype, and actively protect against inflammatory pregnancy loss in mice.
Jing Wang, Ning Lu, Xin‐Xiu Lin, Xu‐Hui Fang, Yi‐Hui Li, Qing‐Peng Luo, Yu‐Ting Peng, Gil Mor, Ai‐Hua Liao   +8 more
wiley   +1 more source

The Landscape and Regulation of Histone Crotonylation in Mammalian Gametes and Early Embryos

Advanced Science, EarlyView.
Histone crotonylation undergoes a genome‐wide transition from broad domains to canonical narrow peaks during minor zygotic genome activation (ZGA). This remodeling is required for proper major ZGA and blastocyst formation. Disruption of this transition by transcriptional inhibition, metabolic perturbation, or HDAC1 dysfunction impairs embryonic ...
Shenli Yuan, Yelian Yan, Yalin Liang, Kanghua Zhong, Zhican Fu, Xiaobo Wang, Chao Liu, Tao Huang, Keliang Wu   +8 more
wiley   +1 more source

Paternal Caffeine Exposure Programs Offspring Stress Vulnerability via Sperm Dlk1‐Dio3 Imprinting‐Directed Remodeling of a Novel Neural Circuit

Advanced Science, EarlyView.
The study elucidates that paternal preconception stress can drive offspring hyperresponsivity of the stress system via hypomethylation of a specific DNA region in sperm. This key link is confirmed in a cohort of prospective fathers: the epigenetic alteration is associated with elevated stress hormone levels.
Mengxi Lu, Gaole Dai, Sen Zhu, Shuai Zhang, Tingting Wang, Yuan Meng, Fang Yang, Xiaoyi Han, Hui Wang, Hao Kou, Dan Xu   +10 more
wiley   +1 more source

Relative Exchangeable Copper Confirms Wilson Disease and Supports Reclassification of the ATP7B p.Met665Ile Variant With Conflicting Pathogenicity Evidence

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Wilson disease (WD) is an autosomal recessive disorder of copper metabolism caused by ATP7B mutations. Diagnosis is usually straightforward in symptomatic patients, but can be challenging in children and adolescents with mild liver disease, borderline urinary copper excretion, or inconclusive genetic findings.
Emanuele Nicastro, Caterina Zuccoli, Roberto Marozzi, Antonino Barletta, Lisa Licini, Paola Tebaldi, Valeria Casotti, Mariangela Stinco, Lidia Pezzani, Maria Iascone, Lorenzo D'Antiga   +10 more
wiley   +1 more source

Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are a group of genetic disorders caused by pathogenic variants in the RAS‐mitogen‐activated protein kinase (RAS–MAPK) signaling pathway, often presenting with congenital heart defects, craniofacial dysmorphisms, and developmental delays. To assess the diagnostic yield of genetic testing in patients with suspected RASopathies and to
Emanuele Bobbio, Martina Caiazza, Emanuele Monda, Giustina Aruta, Alberto Budillon, Augusto Esposito, Adelaide Fusco, Annapaola Cirillo, Marta Rubino, Immacolata Viscovo, Gioacchino Scarano, Matteo Della Monica, Vincenzo Nigro, Giulio Piluso, Leandro Pecchia, Maria Giovanna Russo, Giuseppe Limongelli   +16 more
wiley   +1 more source

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