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2,135 Results Found

  • Article
  • Open Access
1 Citations
2,110 Views
13 Pages

Rare Variant Burden and Behavioral Phenotypes in Children with Autism in Slovakia

  • Gabriela Repiská,
  • Michal Konečný,
  • Gabriela Krasňanská,
  • Hana Celušáková and ,
  • Ivan Belica,
  • Barbara Rašková,
  • Mária Kopčíková,
  • Petra Keményová,
  • Daniela Ostatníková and
  • Silvia Lakatošová
  • + 5 authors+ 0 author

28 July 2025

Background: Autism spectrum disorder (ASD) is a heterogeneous group of neurodevelopmental disorders characterized by a complex, multifactorial etiology with a strong genetic contribution. Our study aimed to evaluate the link between the burden of rar...

(This article belongs to the Section Human Genomics and Genetic Diseases)
  • Article
  • Open Access
358 Views
17 Pages

Behavioral Phenotypes of Omani Children with Autism Spectrum Disorder

  • Ahmed Al Saidi,
  • Moon Fai Chan,
  • Watfa Al-Mamari,
  • Ahmed B. Idris and ,
  • Sara Al Shirawi and
  • Zamzam Al Hashmi
  • + 1 author+ 0 author

20 October 2026

Background: Autism spectrum disorder (ASD) is characterized by substantial phenotypic heterogeneity, which can complicate clinical formulation and intervention planning. Despite increasing epidemiological research on ASD in the Sultanate of Oman, sys...

(This article belongs to the Special Issue Early Identification and Intervention for Autism Spectrum Disorders)
  • Article
  • Open Access
12 Citations
4,035 Views
18 Pages

Oleocanthal Ameliorates Metabolic and Behavioral Phenotypes in a Mouse Model of Alzheimer’s Disease

  • Euitaek Yang,
  • Junwei Wang,
  • Lauren N. Woodie,
  • Michael W. Greene and
  • Amal Kaddoumi

23 July 2023

Aging is a major risk factor for Alzheimer’s disease (AD). AD mouse models are frequently used to assess pathology, behavior, and memory in AD research. While the pathological characteristics of AD are well established, our understanding of the...

  • Article
  • Open Access
10 Citations
4,124 Views
17 Pages

Variability in Behavioral Phenotypes after Forced Swimming-Induced Stress in Rats Is Associated with Expression of the Glucocorticoid Receptor, Nurr1, and IL-1β in the Hippocampus

  • Elizabeth Ruiz-Sánchez,
  • Arely M. López-Ramírez,
  • Ángel Ruiz-Chow,
  • Minerva Calvillo and ,
  • Aldo A. Reséndiz-Albor,
  • Brenda Anguiano and
  • Patricia Rojas
  • + 2 authors+ 0 author

24 November 2021

Individual differences in coping with stress may determine either a vulnerable or resilient phenotype. Therefore, it is important to better understand the biology underlying the behavioral phenotype. We assessed whether individual behavioral phenotyp...

(This article belongs to the Special Issue Individual Variability in Animal Models of Psychopathologies)
  • Article
  • Open Access
40 Citations
8,448 Views
14 Pages

Insomnia Phenotypes Based on Objective Sleep Duration in Adolescents: Depression Risk and Differential Behavioral Profiles

  • Julio Fernandez-Mendoza,
  • Susan L. Calhoun,
  • Alexandros N. Vgontzas,
  • Yun Li and ,
  • Jordan Gaines,
  • Duanping Liao and
  • Edward O. Bixler
  • + 2 authors+ 0 author

13 December 2016

Based on previous studies on the role of objective sleep duration in predicting morbidity in individuals with insomnia, we examined the role of objective sleep duration in differentiating behavioral profiles in adolescents with insomnia symptoms. Ado...

(This article belongs to the Special Issue New Research in Insomnia)
  • Technical Note
  • Open Access
13 Citations
3,620 Views
22 Pages

The United States is predicted to experience an annual decline in milk production due to heat stress of 1.4 and 1.9 kg/day by the 2050s and 2080s, with economic losses of USD 1.7 billion and USD 2.2 billion, respectively, despite current cooling effo...

  • Review
  • Open Access
1,963 Views
21 Pages

25 December 2025

REM sleep behavior disorder (RBD) represents a prodromal manifestation of Parkinson’s disease (PD), reflecting the breakdown of inhibitory networks extending from the brainstem to the cortex. This review synthesizes pathological, physiological,...

(This article belongs to the Section Applied Biosciences and Bioengineering)
  • Case Report
  • Open Access
3 Citations
3,883 Views
7 Pages

19 October 2020

Duplications of chromosome 16p11.2, even though rare in the general population, are one of the most frequent known genetic causes of autism spectrum disorder and of other neurodevelopmental disorders. However, data about the neuro-behavioral phenotyp...

(This article belongs to the Special Issue Neurodevelopmental Disorders: Diagnosis, Psychiatric Comorbidities and Treatment)
  • Article
  • Open Access
4 Citations
1,548 Views
13 Pages

7,8-DHF Modulates Aggressive Behavior in Sebastes schlegelii: Phenotype-Dependent Responses in Aggression-Dimorphic Individuals

  • Shufei Xu,
  • Xinna Ma,
  • Yang Xiao,
  • Tao Zhang and ,
  • Chao Ma and
  • Zhen Ma
  • + 1 author+ 0 author

19 May 2025

Aggressive behavior is regulated by intricate neural circuits and molecular mechanisms, notably through the interaction of brain-derived neurotrophic factor (BDNF) with its receptor, tropomyosin receptor kinase B (TrkB), which influences neuroplastic...

(This article belongs to the Topic The Importance of Fish Phenotype in Aquaculture, Fisheries and Conservation)
  • Feature Paper
  • Article
  • Open Access
16 Citations
5,113 Views
11 Pages

Associations between Lifestyle Behaviors and Quality of Life Differ Based on Multiple Sclerosis Phenotype

  • Nupur Nag,
  • Maggie Yu,
  • George A. Jelinek,
  • Steve Simpson-Yap and ,
  • Sandra L. Neate and
  • Hollie K. Schmidt
  • + 1 author+ 0 author

17 November 2021

Multiple sclerosis (MS), a neuroinflammatory disorder, occurs as non-progressive or progressive phenotypes; both forms present with diverse symptoms that may reduce quality of life (QoL). Adherence to healthy lifestyle behaviors has been associated w...

(This article belongs to the Special Issue Personalized Diagnosis and Therapy for Multiple Sclerosis)
  • Article
  • Open Access
417 Views
24 Pages

Continuous OFT-Based Behavioral Phenotyping Reveals Neural Stem Cell-Associated Shifts in Depression-like Mice

  • Han Wang,
  • Zhaoming Liu,
  • Xianjie Li,
  • Lin Fu and ,
  • Tingxin Lu,
  • Dantong Wang,
  • Guanzhen Lin and
  • Caixia Wu
  • + 3 authors+ 0 author

26 August 2026

Background: Depression-like phenotypes in animal models often show graded behavioral variation rather than uniform group-wise changes, yet treatment effects are still commonly evaluated using categorical comparisons. In particular, it remains difficu...

(This article belongs to the Special Issue Artificial Intelligence in Neurological Disorders)
  • Article
  • Open Access
6 Citations
4,297 Views
15 Pages

Behavioral and Synaptic Phenotypes of Female Prdx6−/− Mice

  • Tanita Pairojana,
  • Sarayut Phasuk,
  • Pavithra Suresh and
  • Ingrid Y. Liu

Peroxiredoxin 6 (PRDX6) is expressed throughout the brain, including the hippocampus, where it plays a potential role in synaptic regulation and forming emotional and spatial memories. PRDX6 is predominantly detected in the female mouse’s hippo...

(This article belongs to the Special Issue Physiological and Pathological Significance of Peroxiredoxins)
  • Article
  • Open Access
1 Citations
302 Views
23 Pages

Behavioral Procrastination, Visceral Adiposity, and Insulin Resistance Phenotypes

  • Manuel Sarmiento-Cruz,
  • Pedro Juan Tárraga López,
  • Mónica Silu Piña Dabreu,
  • Lluis Rodas Cañellas and ,
  • Ángel Arturo López-González and
  • José Ignacio Ramírez-Manent
  • + 1 author+ 0 author

Background. Behavioral procrastination has traditionally been considered a self-regulatory and psychological phenomenon; however, growing evidence suggests that chronic procrastination may also contribute to adverse physical health outcomes through p...

(This article belongs to the Section Obesity, Diabetes Mellitus and Metabolic Syndrome)
  • Article
  • Open Access
11 Citations
4,350 Views
11 Pages

Genetic Subtype-Phenotype Analysis of Growth Hormone Treatment on Psychiatric Behavior in Prader-Willi Syndrome

  • Andrea S. Montes,
  • Kathryn E. Osann,
  • June Anne Gold,
  • Roy N. Tamura and ,
  • Daniel J. Driscoll,
  • Merlin G. Butler and
  • Virginia E. Kimonis
  • + 2 authors+ 0 author

23 October 2020

Prader-Willi syndrome (PWS) is a complex multisystemic condition caused by a lack of paternal expression of imprinted genes from the 15q11.2–q13 region. Limited literature exists on the association between molecular classes, growth hormone use,...

(This article belongs to the Special Issue Genetics of Prader-Willi syndrome)
  • Communication
  • Open Access
6 Citations
5,116 Views
10 Pages

Sex-Specific Social Effects on Depression-Related Behavioral Phenotypes in Mice

  • Seona D. Patel,
  • Lindsay P. Cameron and
  • David E. Olson

1 December 2021

Social interaction and empathy play critical roles in determining the emotional well-being of humans. Stress-related depression and anxiety can be exacerbated or mitigated depending on specific social conditions. Although rodents are well known to ex...

  • Article
  • Open Access
1,848 Views
12 Pages

Toward Precision Obesity Pharmacotherapy: Using the Eating Behavior Phenotype Scale (EFCA) in Real-World Clinical Practice

  • Ronaldo José Pineda-Wieselberg,
  • Andressa Heimbecher Soares,
  • Thiago Fraga Napoli,
  • Nilza Maria Scalissi and
  • João Eduardo Nunes Salles

30 April 2026

Background: Obesity is a heterogeneous chronic disease in which eating behavior phenotypes may influence treatment response. Yet, anti-obesity medication (AOM) selection is still largely guided by anthropometric and metabolic parameters, with limited...

(This article belongs to the Special Issue Dietary Patterns and Data Analysis Methods)
  • Article
  • Open Access
3 Citations
2,718 Views
22 Pages

Characterization of Behavioral Phenotypes in Heterozygous DAT Rat Based on Pedigree

  • Gioia Zanfino,
  • Concetto Puzzo,
  • Vincenzo de Laurenzi and
  • Walter Adriani

18 September 2023

Dopamine is an essential neurotransmitter whose key roles include movement control, pleasure and reward, attentional and cognitive skills, and regulation of the sleep/wake cycle. Reuptake is carried out by the dopamine transporter (DAT; DAT1 SLC6A3 g...

(This article belongs to the Special Issue Dopamine Signaling Pathway in Health and Disease)
  • Article
  • Open Access
5 Citations
5,366 Views
11 Pages

A Preliminary Study on the Interplay between the Serum Levels of Neurotransmitters and Thyroid Hormones for the Evaluation of the Behavioral Phenotype of Dogs

  • Raffaella Cocco,
  • Francesca Arfuso,
  • Claudia Giannetto,
  • Giuseppe Piccione and ,
  • Alberto Cesarani,
  • Giuseppe Pulina and
  • Sara Sechi
  • + 2 authors+ 0 author

26 January 2023

A total of 112 dogs (49 males and 63 females) belonging to different breeds (i.e., Boxer, Cirneco dell’Etna, Fonni’s Dog, Labrador, Crossbreed, German Shepherd, Pit Bull, Shar-Pei, Yorkshire) were analyzed to compare the serum concentrati...

(This article belongs to the Section Animal Welfare)
  • Article
  • Open Access
1,536 Views
15 Pages

Adaptive and Behavioral Phenotype in Pediatric 22q11.2 Deletion Syndrome: Characterizing a High-Risk Neurogenetic Copy Number Variant

  • Larissa Salustiano Evangelista Pimenta,
  • Claudia Berlim de Mello,
  • Guilherme V. Polanczyk,
  • Leslie Domenici Kulikowski and ,
  • Maria Isabel Melaragno and
  • Chong Ae Kim
  • + 1 author+ 0 author

24 January 2026

22q11.2 deletion syndrome (22q11.2DS) is the most common recurrent microdeletion in humans and a prototypical high-risk neurogenetic copy number variant (CNV) associated with a broad spectrum of neurodevelopmental and psychiatric disorders, including...

(This article belongs to the Section Human Genomics and Genetic Diseases)
  • Article
  • Open Access
3 Citations
6,519 Views
22 Pages

Heritability and Genome-Wide Association Study of Dog Behavioral Phenotypes in a Commercial Breeding Cohort

  • Nayan Bhowmik,
  • Shawna R. Cook,
  • Candace Croney,
  • Shanis Barnard and ,
  • Aynsley C. Romaniuk and
  • Kari J. Ekenstedt
  • + 1 author+ 0 author

17 December 2024

Background: Canine behavior plays an important role in the success of the human–dog relationship and the dog’s overall welfare, making selection for behavior a vital part of any breeding program. While behaviors are complex traits determi...

(This article belongs to the Section Animal Genetics and Genomics)
  • Article
  • Open Access
4 Citations
2,413 Views
22 Pages

7 September 2022

Long noncoding RNAs (lncRNAs) play an important role in the control of many physiological and pathophysiological processes, including the development of hypertension and other cardiovascular diseases. Nonetheless, the understanding of the regulatory...

(This article belongs to the Special Issue Advances of Brain Transcriptomics)
  • Article
  • Open Access
28 Citations
7,923 Views
15 Pages

Specific Learning Disabilities and Emotional-Behavioral Difficulties: Phenotypes and Role of the Cognitive Profile

  • Paola Cristofani,
  • Maria Chiara Di Lieto,
  • Claudia Casalini,
  • Chiara Pecini and ,
  • Matteo Baroncini,
  • Ottavia Pessina,
  • Filippo Gasperini,
  • Maria Bianca Dasso Lang,
  • Mariaelisa Bartoli and
  • Annarita Milone
  • + 6 authors+ 1 author

27 February 2023

Specific Learning Disabilities (SLD) are often associated with emotional-behavioral problems. Many studies highlighted a greater psychopathological risk in SLD, describing both internalizing and externalizing problems. The aims of this study were to...

(This article belongs to the Special Issue (Recent Advances) Treating Psychiatry Disorders in Children and Adolescents: From Theory to Practice)
  • Article
  • Open Access
22 Citations
6,313 Views
20 Pages

Dynamic Phenotypic Switching and Group Behavior Help Non-Small Cell Lung Cancer Cells Evade Chemotherapy

  • Arin Nam,
  • Atish Mohanty,
  • Supriyo Bhattacharya,
  • Sourabh Kotnala and ,
  • Srisairam Achuthan,
  • Kishore Hari,
  • Saumya Srivastava,
  • Linlin Guo,
  • Anusha Nathan and
  • Ravi Salgia
  • + 14 authors+ 9 authors

21 December 2021

Drug resistance, a major challenge in cancer therapy, is typically attributed to mutations and genetic heterogeneity. Emerging evidence suggests that dynamic cellular interactions and group behavior also contribute to drug resistance. However, the un...

(This article belongs to the Section Bioinformatics and Systems Biology)
  • Article
  • Open Access
927 Views
24 Pages

Computational Phenotyping of Autism-Related Behaviors: A Cross-Cultural Machine Learning Study in Bangladesh

  • Saimourya Surabhi,
  • Kaitlyn Dunlap,
  • Parnian Azizian,
  • Mohammadmahdi Honarmand and ,
  • Asma Begum Shilpi,
  • Romela Murshed,
  • Nasrin Sultana,
  • Shoma Sultana,
  • Selina H. Banu and
  • Dennis P. Wall
  • + 9 authors+ 4 authors

Background: Digital behavioral phenotyping of autism spectrum disorder (ASD) offers a promising approach for developing more scalable diagnostic frameworks across diverse global contexts. Machine learning (ML) models show promise for ASD diagnosis us...

  • Article
  • Open Access
9 Citations
6,470 Views
10 Pages

Behavioral and Physiological Reactions to a Sudden Novel Object in the Weanling Horse: Quantitative Phenotypes for Future GWAS

  • Barclay B. Powell,
  • Kelsey C. Horvath,
  • Tyeler L. Gilliam,
  • Kimberly T. Sibille and ,
  • Andreas Keil,
  • Emily K. Miller-Cushon,
  • Carissa L. Wickens and
  • Samantha A. Brooks
  • + 3 authors+ 0 author

26 February 2023

The startle response can be defined as a reflexive reaction to the sudden appearance of a novel stimulus that influences the survival and resilience of animals. In domesticated species, the behavioral component of the startle response can, in some ca...

(This article belongs to the Special Issue Behavioral Genetics)
  • Essay
  • Open Access
2 Citations
2,037 Views
14 Pages

12 February 2025

This essay presents two lines of argument to suggest that the extension into adulthood of specific phenotypic differentiation processes, typical of early development, is fundamental to the evolution of cognition. The first of these two lines of argum...

(This article belongs to the Special Issue Evolutionary Insights into Life History)
  • Article
  • Open Access

Regression Analysis of the Relationship Between Neurogenesis and Maze Learning in Rats with Divergent Behavioral Phenotypes

  • Olga Nedogreeva,
  • Diana Mamedova,
  • Vyacheslav Riga,
  • Victor Aniol and ,
  • Natalia Lazareva,
  • Natalia Gulyaeva and
  • Mikhail Stepanichev
  • + 2 authors+ 0 author

11 November 2026

The relationship between learning capacity and hippocampal neurogenesis is still poorly understood. Moreover, the effect of pathological behavior on this relationship is unknown. In this study, we investigated this problem in rats with different beha...

(This article belongs to the Topic Animal Models of Human Disease 3.0)
  • Article
  • Open Access
11 Citations
6,434 Views
14 Pages

Comparative Behavioral Phenotypes of Fmr1 KO, Fxr2 Het, and Fmr1 KO/Fxr2 Het Mice

  • Rachel Michelle Saré,
  • Christopher Figueroa,
  • Abigail Lemons,
  • Inna Loutaev and
  • Carolyn Beebe Smith

16 January 2019

Fragile X syndrome (FXS) is caused by silencing of the FMR1 gene leading to loss of the protein product fragile X mental retardation protein (FMRP). FXS is the most common monogenic cause of intellectual disability. There are two known mammalian para...

(This article belongs to the Special Issue Towards Mechanism-based Treatments for Fragile X Syndrome)
  • Review
  • Open Access
5 Citations
10,725 Views
13 Pages

The rs1360780 Variant of FKBP5: Genetic Variation, Epigenetic Regulation, and Behavioral Phenotypes

  • Marcelo Arancibia,
  • Marcia Manterola,
  • Ulises Ríos,
  • Pablo R. Moya and ,
  • Javier Moran-Kneer and
  • M. Leonor Bustamante
  • + 1 author+ 0 author

11 March 2025

FKBP5 has been of special scientific interest in the behavioral sciences since it has been involved in the pathophysiology of several mental disorders. It is a gene with pleiotropic effects which encodes the protein FKBP5, a cochaperone that decrease...

(This article belongs to the Section Molecular Genetics and Genomics)
  • Article
  • Open Access
6 Citations
3,676 Views
21 Pages

Behavioral Voluntary and Social Bioassays Enabling Identification of Complex and Sex-Dependent Pain-(-Related) Phenotypes in Rats with Bone Cancer

  • Daniel Segelcke,
  • Jan Linnemann,
  • Bruno Pradier,
  • Daniel Kronenberg and ,
  • Richard Stange,
  • S. Helene Richter,
  • Dennis Görlich,
  • Nicola Baldini,
  • Gemma Di Pompo and
  • Esther M. Pogatzki-Zahn
  • + 7 authors+ 2 authors

2 March 2023

Cancer-induced bone pain (CIBP) is a common and devastating symptom with limited treatment options in patients, significantly affecting their quality of life. The use of rodent models is the most common approach to uncovering the mechanisms underlyin...

  • Article
  • Open Access
6 Citations
2,426 Views
22 Pages

26 November 2025

Chronic stress alters hypothalamic–pituitary–adrenal (HPA) axis function, affecting corticosterone regulation and adaptive responses. Understanding individual variability in stress adaptation requires identifying distinct HPA axis respons...

(This article belongs to the Section Molecular Neurobiology)
  • Article
  • Open Access
17 Citations
5,259 Views
12 Pages

23 February 2021

Mouse models are widely used to study behavioral phenotypes related to neuropsychiatric disorders. However, different mouse strains vary in their inherent behavioral and molecular characteristics, which needs to be taken into account depending on the...

(This article belongs to the Special Issue Metabolomics and Its Application in Human Diseases Volume 2)
  • Article
  • Open Access
3 Citations
2,835 Views
12 Pages

Automated Behavioral Analysis of Schizophrenia-like Phenotypes in Repeated MK-801-Treated Mice Using IntelliCage

  • Hisayoshi Kubota,
  • Xinjian Zhang,
  • Masoumeh Khalili,
  • Xinzhu Zhou and ,
  • Yu Wen and
  • Taku Nagai
  • + 1 author+ 0 author

Schizophrenia is a psychiatric disorder characterized by positive, negative, and cognitive symptoms. MK-801, an N-methyl-D-aspartate receptor antagonist, has been used to induce schizophrenia-like behaviors in animal models. Here, we employed Intelli...

(This article belongs to the Section Molecular Neurobiology)
  • Article
  • Open Access
13 Citations
4,279 Views
11 Pages

Intellectual and Behavioral Phenotypes of Smith–Magenis Syndrome: Comparisons between Individuals with a 17p11.2 Deletion and Pathogenic RAI1 Variant

  • Cathelijne C. Linders,
  • Agnies M. van Eeghen,
  • Janneke R. Zinkstok,
  • Marie-José van den Boogaard and
  • Erik Boot

25 July 2023

Aim: Smith–Magenis syndrome (SMS) is a rare genetic neurodevelopmental disorder caused by a 17p11.2 deletion or pathogenic variant in the RAI1 gene. SMS is associated with developmental delay, intellectual disability (ID), and major sleep and b...

(This article belongs to the Section Human Genomics and Genetic Diseases)
  • Article
  • Open Access
3 Citations
1,631 Views
14 Pages

Distinct Swimming Behavioral Phenotypes Following Serotonin and Dopamine Transporter Modulation in the Adult Zebrafish Novel Tank Diving Test (NTT)

  • Amaury Farías-Cea,
  • Lisandra Pérez,
  • Cristóbal Leal,
  • Kerim Segura and ,
  • Valentina Hernández,
  • Caridad Atiés-Pérez,
  • Luis Miguel Martínez,
  • Martin Hödar-Salazar,
  • Miguel Reyes-Parada and
  • Patricio Iturriaga-Vásquez
  • + 10 authors+ 5 authors

27 November 2025

Background/Objective: Serotonin and dopamine are key neurotransmitters involved in regulating mood, anxiety, and locomotor activity. Specific transporters mediate their reuptake, SERT and DAT, making them targets for drugs such as Fluoxetine and Meth...

(This article belongs to the Special Issue Application of Zebrafish Model in Pharmacology and Toxicology)
  • Article
  • Open Access
1,375 Views
20 Pages

Multimodal Behavior Scoring Quantifies Depression-like Severity Across Chronic Stress Models and Identifies Stress-Resilient Mice

  • Yue Tu,
  • Qinghui Fu,
  • Canghao Sun,
  • Jing Deng and ,
  • Haoning Qin,
  • Xianlin Zeng,
  • Yuchuan Wang,
  • Shulan Qiu and
  • Weixiong Zhang
  • + 4 authors+ 0 author

Rodent models, especially chronic stress paradigms, are essential in depression research, yet existing behavioral assessments often struggle to capture pathophysiological heterogeneity. We developed the Multimodal Behavior Scoring (MBS) algorithm, wh...

  • Article
  • Open Access
25 Citations
6,489 Views
17 Pages

Haploinsufficiency of a Circadian Clock Gene Bmal1 (Arntl or Mop3) Causes Brain-Wide mTOR Hyperactivation and Autism-like Behavioral Phenotypes in Mice

  • Rubal Singla,
  • Abhishek Mishra,
  • Hao Lin,
  • Ethan Lorsung and ,
  • Nam Le,
  • Su Tin,
  • Victor X. Jin and
  • Ruifeng Cao
  • + 3 authors+ 0 author

Approximately 50–80% of children with autism spectrum disorders (ASDs) exhibit sleep problems, but the contribution of circadian clock dysfunction to the development of ASDs remains largely unknown. The essential clock gene Bmal1 (Arntl or Mop3...

(This article belongs to the Section Molecular Endocrinology and Metabolism)
  • Article
  • Open Access
1 Citations
2,708 Views
14 Pages

Excess Heritability Contribution of Alcohol Consumption Variants in the “Missing Heritability” of Type 2 Diabetes Mellitus

  • Yujia Ma,
  • Zechen Zhou,
  • Xiaoyi Li,
  • Zeyu Yan and ,
  • Kexin Ding and
  • Dafang Chen
  • + 1 author+ 0 author

15 November 2021

We aim to compare the relative heritability contributed by variants of behavior-related environmental phenotypes and elucidate the role of these factors in the conundrum of “missing heritability” of type 2 diabetes. Methods: We used Linkage-Disequili...

(This article belongs to the Section Molecular Genetics and Genomics)
  • Article
  • Open Access
2 Citations
1,778 Views
16 Pages

Distinct Role of γ-Synuclein in the Regulation of Motor Performance and Behavioral Responses in Mice

  • Iuliia S. Sukhanova,
  • Kirill D. Chaprov,
  • Olga A. Morozova,
  • Ruslan K. Ovchinnikov and ,
  • Olga A. Kukharskaya,
  • Valeria N. Zalevskaya,
  • Nadezhda M. Yusupova,
  • Anastasia A. Lugovskaya,
  • Natalia N. Ninkina and
  • Michail S. Kukharsky
  • + 5 authors+ 0 author

Background: The three Synuclein family members (α-, β-, and γ-synuclein) are presynaptic proteins that regulate synaptic vesicle trafficking and thereby influence neurotransmitter release. Synucleins belong to a class of intrinsicall...

(This article belongs to the Section Neurobiology and Clinical Neuroscience)
  • Article
  • Open Access
627 Views
19 Pages

26 July 2026

Depressive symptoms among university students are a growing public health concern, motivating unobtrusive monitoring with smartphone-based digital phenotyping. This study examined whether passively collected behavioral features can identify elevated...

(This article belongs to the Special Issue AI for Medical Systems: Algorithms, Applications, and Challenges)
  • Review
  • Open Access
7 Citations
4,610 Views
18 Pages

17 July 2025

Reproductive efficiency is a critical determinant of productivity and profitability in sheep farming. Traditional selection methods have largely relied on phenotypic traits and historical reproductive records, which are often limited by subjectivity...

(This article belongs to the Section Animal Genetics and Genomics)
  • Case Report
  • Open Access
5 Citations
4,434 Views
7 Pages

Autism Spectrum Disorder and a De Novo Kcnq2 Gene Mutation: A Case Report

  • Martina Siracusano,
  • Claudia Marcovecchio,
  • Assia Riccioni,
  • Caterina Dante and
  • Luigi Mazzone

24 April 2022

The KCNQ2 gene, encoding for the Kv7.2 subunits of the Kv7 voltage potassium channel, is involved in the modulation of neuronal excitability and plays a crucial role in brain morphogenesis and maturation during embryonic life. De novo heterozygous mu...

  • Article
  • Open Access
15 Citations
6,218 Views
24 Pages

24 November 2021

The high level of heterogeneity in Autism Spectrum Disorder (ASD) and the lack of systematic measurements complicate predicting outcomes of early intervention and the identification of better-tailored treatment programs. Computational phenotyping may...

(This article belongs to the Special Issue Social Interaction in Children with Neurodevelopmental Disorders)
  • Article
  • Open Access
34 Citations
5,693 Views
14 Pages

Nanomechanical Phenotype of Melanoma Cells Depends Solely on the Amount of Endogenous Pigment in the Cells

  • Michal Sarna,
  • Andrzej Zadlo,
  • Barbara Czuba-Pelech and
  • Krystyna Urbanska

18 February 2018

Cancer cells have unique nanomechanical properties, i.e., they behave as if they were elastic. This property of cancer cells is believed to be one of the main reasons for their facilitated ability to spread and metastasize. Thus, the so-called nanome...

(This article belongs to the Special Issue Melanins and Melanogenesis: From Nature to Applications)
  • Article
  • Open Access
1,526 Views
15 Pages

Metformin Treatment Shows Beneficial Effects on RTT-Associated Phenotypical Deficits in Mecp2 T158M Male Mice

  • Khatereh Saei Arezoumand,
  • Ghanan Bin Akhtar,
  • Ashraf Kadar Shahib,
  • Jessica S. Jarmasz and ,
  • Chris-Tiann Roberts,
  • Abbas Rezaeian Mehrabadi,
  • Carl O. Olson and
  • Mojgan Rastegar
  • + 3 authors+ 0 author

15 April 2026

Background: Rett Syndrome (RTT) is a progressive neurodevelopmental disorder caused by MECP2 gene mutations. MeCP2 protein binding to methylated DNA is involved in normal brain development and function. T158M is a common RTT-associated mutation, wher...

(This article belongs to the Section Pharmacology)
  • Review
  • Open Access
40 Citations
16,515 Views
24 Pages

14 January 2013

The rapid rate of anthropogenic-related climate change is expected to severely impact ecosystems and their constituent organisms, leading to mass extinction. A rapid adaptive response of animals to such change could be due to reversible phenotypic fl...

(This article belongs to the Special Issue Adaptation or Extinction)
  • Article
  • Open Access
11 Citations
4,473 Views
19 Pages

26 August 2020

(1) Background: Together with treatment protocols, viscoelastic tests are widely used for patient care. Measuring at broader ranges of deformation than currently done will add information on a clot’s mechanical phenotype because fibrin networks follo...

(This article belongs to the Special Issue Biological and Bio-inspired Materials)
  • Article
  • Open Access
317 Views
30 Pages

17 August 2026

Anxiety and depressive symptoms are common in patients with inflammatory demyelinating diseases (IDDs), but low-burden digital behavioral tools remain underexplored. This study examined whether digital tree drawing and person-in-the-rain tasks contai...

(This article belongs to the Special Issue Artificial Intelligence Applications in Healthcare and Precision Medicine, 2nd Edition)
  • Article
  • Open Access
9 Citations
4,644 Views
9 Pages

28 January 2023

A series of behavioral detection paradigms have been developed for zebrafish (Danio rerio) to examine anxiety-like behavioral responses. Among them, the novel tank diving test is rapidly gaining popularity in translational neuroscience and behavioral...

(This article belongs to the Section Biology and Ecology)
  • Review
  • Open Access
8 Citations
5,118 Views
15 Pages

Intellectual Disability and Brain Creatine Deficit: Phenotyping of the Genetic Mouse Model for GAMT Deficiency

  • Luigia Rossi,
  • Francesca Nardecchia,
  • Francesca Pierigè,
  • Rossella Ventura and ,
  • Claudia Carducci,
  • Vincenzo Leuzzi,
  • Mauro Magnani,
  • Simona Cabib and
  • Tiziana Pascucci
  • + 4 authors+ 0 author

2 August 2021

Guanidinoacetate methyltransferase deficiency (GAMT-D) is one of three cerebral creatine (Cr) deficiency syndromes due to pathogenic variants in the GAMT gene (19p13.3). GAMT-D is characterized by the accumulation of guanidinoacetic acid (GAA) and th...

(This article belongs to the Special Issue Genetics and Genomics of Intellectual Disability)

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