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65 Results Found

  • Article
  • Open Access
7 Citations
4,528 Views
11 Pages

24 July 2018

The species complex of the mosquito Anopheles subpictus is designated by the sibling species A–D, depending on morphological characters of life cycle stages and variations in polytene chromosomes. However, morphological aberrations in the life...

  • Case Report
  • Open Access
4 Citations
769 Views
3 Pages

A Novel Homozygous Variation in the PANK2 Gene in Two Persian Siblings with Atypical Pantothenate Kinase Associated Neurodegeneration

  • Amir Hasan Habibi,
  • Saeed Razmeh,
  • Omid Aryani,
  • Mohammad Rohani,
  • Laleh Taghavian,
  • Elham Alizadeh,
  • Karim Moradian Kokhedan and
  • Maryam Zaribafian

11 March 2019

Pantothenate Kinase-associated Neurodegeneration (PKAN) is an autosomal recessive disorder that is caused by variation in pantothenate kinase-2 gene (PANK2) gene on chromosome 20. The common presentation of this disease includes progressive dystonia,...

  • Article
  • Open Access
5 Citations
3,846 Views
12 Pages

Phenotypic Variation in Two Siblings Affected with Shwachman-Diamond Syndrome: The Use of Expert Variant Interpreter (eVai) Suggests Clinical Relevance of a Variant in the KMT2A Gene

  • Ibrahim Taha,
  • Federica De Paoli,
  • Selena Foroni,
  • Susanna Zucca,
  • Ivan Limongelli,
  • Marco Cipolli,
  • Cesare Danesino,
  • Ugo Ramenghi and
  • Antonella Minelli

23 July 2022

Introduction. Shwachman-Diamond Syndrome (SDS) is an autosomal-recessive disorder characterized by neutropenia, pancreatic exocrine insufficiency, skeletal dysplasia, and an increased risk for leukemic transformation. Biallelic mutations in the SBDS...

  • Article
  • Open Access

Sibling-Derived Cell Lines of Whole Larval Siberian Sturgeon as an In Vitro Model System for Studying Inter-Individual Differences Within the Same Genomic Heritage

  • Valeria Di Leonardo,
  • Katrin Tönißen,
  • Julia Brenmoehl,
  • Daniela Ohde,
  • Heike Wanka,
  • Kenneth Benning and
  • Bianka Grunow

16 December 2025

Sturgeons, once resilient enough to outlive dinosaurs, are now critically endangered. All 26 species of Acipenseriformes face extinction due to anthropogenic causes. Despite their ecological and economic significance, sturgeon research lacks essentia...

  • Review
  • Open Access
19 Citations
7,329 Views
10 Pages

Siblings of children with life limiting conditions (LLC) are an important part of the broader family system and require consideration in the holistic care of the family. There can be considerable variation in the functioning and adjustment of these s...

  • Article
  • Open Access
1 Citations
2,478 Views
11 Pages

Indirect Genetic Effects of ADIPOQ Variants on Lipid Levels in a Sibling Study of a Rural Chinese Population

  • Zechen Zhou,
  • Yujia Ma,
  • Xiaoyi Li,
  • Zeyu Yan,
  • Kexin Ding,
  • Han Xiao,
  • Yiqun Wu,
  • Dafang Chen and
  • Tao Wu

17 January 2022

Variations in lipid levels are the result of combinations of genetic and environmental factors. We aim to investigate the indirect effect between siblings of the three polymorphisms of ADIPOQ on serum lipid levels in rural Chinese populations. A tota...

  • Article
  • Open Access
2 Citations
2,152 Views
9 Pages

Sibling Resemblance in Physical Activity Levels: The Peruvian Sibling Study on Growth and Health

  • Carla Santos,
  • José Maia,
  • Sara Pereira,
  • Olga Vasconcelos,
  • Rui Garganta,
  • J. Timothy Lightfoot,
  • Go Tani,
  • Donald Hedeker,
  • Peter T. Katzmarzyk and
  • Alcibíades Bustamante

Physical activity is associated with a host of positive health outcomes and is shaped by both genetic and environmental factors. We aim to: (1) estimate sibling resemblance in two physical activity phenotypes [total number of steps∙day−1...

  • Article
  • Open Access
18 Citations
6,146 Views
19 Pages

Analysis of a Sardinian Multiplex Family with Autism Spectrum Disorder Points to Post-Synaptic Density Gene Variants and Identifies CAPG as a Functionally Relevant Candidate Gene

  • Elena Bacchelli,
  • Eleonora Loi,
  • Cinzia Cameli,
  • Loredana Moi,
  • Ana Florencia Vega Benedetti,
  • Sylvain Blois,
  • Antonio Fadda,
  • Elena Bonora,
  • Sandra Mattu and
  • Roberta Fadda
  • + 4 authors

7 February 2019

Autism spectrum disorders (ASDs) are a group of neurodevelopmental disorders with high heritability, although their underlying genetic factors are still largely unknown. Here we present a comprehensive genetic characterization of two ASD siblings fro...

  • Article
  • Open Access
4 Citations
3,722 Views
21 Pages

17 February 2023

Many lepidopteran larvae show body color polyphenism, and their colors may be cryptic on the host plant leaves. To elucidate the effect of the host plant color on the plastic larval body color, we focused on the lycaenid butterfly Zizeeria maha, whic...

  • Article
  • Open Access
27 Citations
7,097 Views
13 Pages

Bird Feces as Indicators of Metal Pollution: Pitfalls and Solutions

  • Tapio Eeva,
  • Nelli Raivikko,
  • Silvia Espín,
  • Pablo Sánchez-Virosta,
  • Suvi Ruuskanen,
  • Jouni Sorvari and
  • Miia Rainio

18 December 2020

Bird feces are commonly used as a proxy for measuring dietary metal exposure levels in wild populations. Our study aims to improve the reliability and repeatability of fecal metal measurements and gives some recommendations for sampling. First, we st...

  • Article
  • Open Access
10 Citations
8,830 Views
16 Pages

30 December 2020

Talk with parents and extended family about sex and relationships can support adolescents’ sexual health. However, few studies explore how parent and extended family communication with adolescents intersect. This study used thematic analysis to...

  • Article
  • Open Access
3 Citations
3,732 Views
17 Pages

Whole Exome-Trio Analysis Reveals Rare Variants Associated with Congenital Pouch Colon

  • Sonal Gupta,
  • Praveen Mathur,
  • Ashwani Kumar Mishra,
  • Krishna Mohan Medicherla,
  • Obul Reddy Bandapalli and
  • Prashanth Suravajhala

Anorectal malformations (ARM) are individually common, but Congenital Pouch Colon (CPC) is a rare anorectal anomaly that causes a dilated pouch and communication with the genitourinary tract. In this work, we attempted to identify de novo heterozygou...

  • Article
  • Open Access
4 Citations
6,231 Views
11 Pages

Under the preference-performance hypothesis, natural selection will favor females that choose oviposition sites that optimize the fitness of their offspring. Such a preference-performance relationship may entail important consequences mainly on fitne...

  • Article
  • Open Access
2 Citations
3,998 Views
14 Pages

Identification of Two Homozygous Variants in MYBPC3 and SMYD1 Genes Associated with Severe Infantile Cardiomyopathy

  • Marta W. Szulik,
  • Miguel Reyes-Múgica,
  • Daniel F. Marker,
  • Ana M. Gomez,
  • Matthew D. Zinn,
  • Leslie K. Walsh,
  • Juan Pablo Ochoa,
  • Sarah Franklin and
  • Lina Ghaloul-Gonzalez

6 March 2023

Mutations in cardiac genes are one of the primary causes of infantile cardiomyopathy. In this study, we report the genetic findings of two siblings carrying variations in the MYBPC3 and SMYD1 genes. The first patient is a female proband exhibiting hy...

  • Article
  • Open Access
1 Citations
1,746 Views
16 Pages

11 March 2025

Background: This paper investigates the long-term effects of the measles, mumps, and rubella (MMR) vaccine on healthcare, education, and economic outcomes using a novel dataset from the Copenhagen School Health Records Register. Methods: To address p...

  • Article
  • Open Access
1 Citations
1,175 Views
15 Pages

4 November 2025

Background/Objectives: Autism Spectrum Disorder (ASD) is a complex neurodevelopmental condition characterized by persistent social communication difficulties and restricted, repetitive behaviors, with prevalence estimates continuing to rise worldwide...

  • Case Report
  • Open Access
2,784 Views
10 Pages

PAX 2 Mutation in an Indian Family with Renal Coloboma Syndrome

  • Kumar Digvijay,
  • Grazia Maria Virzi,
  • Diego Pomarè Montin,
  • Lucas Gobetti da Luz,
  • Maryam Momeni Taramsari,
  • Ashwani Gupta,
  • Manish Malik,
  • Anurag Gupta,
  • Vinant Bhargava and
  • Meenakshi Verma
  • + 3 authors

The transcription factor encoded by the PAX2 gene plays a significant role in the development of the urogenital tract, eyes, ears, and central nervous system. Heterozygous mutations in the PAX2 gene cause renal coloboma syndrome, a rare autosomal dom...

  • Article
  • Open Access
1 Citations
2,336 Views
17 Pages

Evaluation of Long-Term Shortleaf Pine Progeny Tests in the Ouachita and Ozark National Forests, USA

  • Shaik M. Hossain,
  • Don C. Bragg,
  • Virginia L. McDaniel,
  • Carolyn C. Pike,
  • Barbara S. Crane and
  • C. Dana Nelson

19 July 2021

Between the late 1970s and the early 1990s, the USDA Forest Service installed 155 shortleaf pine (Pinus echinata Mill.) progeny tests in national forests across the Southern Region of the United States. Using control-pollinated crosses from the Mount...

  • Article
  • Open Access
10 Citations
3,385 Views
14 Pages

Characterization of SIBLING Proteins in the Mineralized Tissues

  • Sandeep Dab,
  • Nancy Abdelhay,
  • Carlos Alberto Figueredo,
  • Seema Ganatra and
  • Monica Prasad Gibson

4 August 2022

The SIBLING proteins are a family of non-collagenous proteins (NCPs) previously thought to be expressed only in dentin but have been demonstrated in other mineralized and non-mineralized tissues. They are believed to play vital roles in both osteogen...

  • Brief Report
  • Open Access
2 Citations
2,477 Views
12 Pages

18 September 2024

The spotted eagle ray Aetobatus ocellatus (Kuhl, 1923) has a widespread Indo-West Pacific distribution and displays substantial population genetic structuring. Genetic data are crucial for understanding the species’ diversity, connectivity, and...

  • Article
  • Open Access
6 Citations
2,684 Views
16 Pages

Gut Bacteriomes and Ecological Niche Divergence: An Example of Two Cryptic Gastropod Species

  • Elizaveta Gafarova,
  • Dmitrii Kuracji,
  • Karina Sogomonyan,
  • Ivan Gorokhov,
  • Dmitrii Polev,
  • Ekaterina Zubova,
  • Elena Golikova,
  • Andrey Granovitch and
  • Arina Maltseva

13 December 2023

Symbiotic microorganisms may provide their hosts with abilities critical to their occupation of microhabitats. Gut (intestinal) bacterial communities aid animals to digest substrates that are either innutritious or toxic, as well as support their dev...

  • Article
  • Open Access
9 Citations
3,818 Views
11 Pages

A Novel GEMIN4 Variant in a Consanguineous Family Leads to Neurodevelopmental Impairment with Severe Microcephaly, Spastic Quadriplegia, Epilepsy, and Cataracts

  • Hesham Aldhalaan,
  • Albandary AlBakheet,
  • Sarah AlRuways,
  • Nouf AlMutairi,
  • Maha AlNakiyah,
  • Reema AlGhofaili,
  • Kelly J. Cardona-Londoño,
  • Khalid Omar Alahmadi,
  • Hanan AlQudairy and
  • Maha M. AlRasheed
  • + 3 authors

30 December 2021

Pathogenic variants in GEMIN4 contribute to a hereditary disorder characterized by neurodevelopmental features, microcephaly, cataracts, and renal abnormalities (known as NEDMCR). To date, only two homoallelic variations have been linked to the disea...

  • Article
  • Open Access
4 Citations
2,896 Views
27 Pages

3 October 2023

Insect pests like Tribolium and Sitophilus siblings are major threats to grain storage and processing, causing quality and quantity losses that endanger food security. These closely related species, having very similar morphological and biological ch...

  • Review
  • Open Access
6 Citations
3,624 Views
11 Pages

11 September 2021

The genetic etiology of congenital diaphragmatic hernia (CDH), a common and severe birth defect, is still incompletely understood. Chromosomal aneuploidies, copy number variations (CNVs), and variants in a large panel of CDH-associated genes, both de...

  • Article
  • Open Access
2,215 Views
9 Pages

The success of any tsetse control program depends on the knowledge of their behaviour. This study assessed the host choice and feeding behaviours of Glossina morsitans siblings whose parents were bloodfed on rabbits, guinea pigs, rodents, and squirre...

  • Article
  • Open Access
2 Citations
2,734 Views
11 Pages

Intraspecific Genetic Variation for Behavioral Isolation Loci in Drosophila

  • Jessica A. Pardy,
  • Samia Lahib,
  • Mohamed A. F. Noor and
  • Amanda J. Moehring

26 October 2021

Behavioral isolation is considered to be the primary mode of species isolation, and the lack of identification of individual genes for behavioral isolation has hindered our ability to address fundamental questions about the process of speciation. One...

  • Article
  • Open Access
19 Citations
5,232 Views
20 Pages

Structural Variation of the X Chromosome Heterochromatin in the Anopheles gambiae Complex

  • Atashi Sharma,
  • Nicholas A. Kinney,
  • Vladimir A. Timoshevskiy,
  • Maria V. Sharakhova and
  • Igor V. Sharakhov

19 March 2020

Heterochromatin is identified as a potential factor driving diversification of species. To understand the magnitude of heterochromatin variation within the Anopheles gambiae complex of malaria mosquitoes, we analyzed metaphase chromosomes in An. arab...

  • Systematic Review
  • Open Access

Familial Risk Factors in Thyroid Cancer Across Generations and Geographics: A Systematic Review and Meta-Analysis

  • Madeleine B. Landau,
  • Natalie J. Mikhailov,
  • Amreena Singh,
  • Ebtihag O. Alenzi,
  • Baraah Abu Alsel,
  • Mohammed M. Ismail,
  • Manal S. Fawzy and
  • Eman A. Toraih

17 December 2025

The increasing global incidence of thyroid cancer highlights the importance of accurately assessing risk factors, particularly those related to family history. Although having affected family members is widely recognized as a risk factor for thyroid...

  • Article
  • Open Access
14 Citations
3,756 Views
22 Pages

14 June 2022

Motor rehabilitation is used to improve motor control skills to improve the patient’s quality of life. Regular adjustments based on the effect of therapy are necessary, but this can be time-consuming for the clinician. This study proposes to us...

  • Article
  • Open Access
4 Citations
6,395 Views
14 Pages

Comparison of Wing, Ovipositor, and Cornus Morphologies between Sirex noctilio and Sirex nitobei Using Geometric Morphometrics

  • Ming Wang,
  • Lixiang Wang,
  • Ningning Fu,
  • Chenglong Gao,
  • Tegen Ao,
  • Lili Ren and
  • Youqing Luo

24 January 2020

Sirex noctilio F. (Hymenoptera: Siricidae) is an invasive woodwasp from Europe and North Africa. Globalization has led to an expanding global presence in pine forests. S. noctilio has been previously introduced outside of its native range and now co-...

  • Article
  • Open Access
3 Citations
2,792 Views
19 Pages

To Be, or Not to Be: That Is the Hamletic Question of Cryptic Evolution in the Eastern Atlantic and Mediterranean Raja miraletus Species Complex

  • Alice Ferrari,
  • Valentina Crobe,
  • Rita Cannas,
  • Rob W. Leslie,
  • Fabrizio Serena,
  • Marco Stagioni,
  • Filipe O. Costa,
  • Daniel Golani,
  • Farid Hemida and
  • Diana Zaera-Perez
  • + 5 authors

28 June 2023

Despite a high species diversity, skates (Rajiformes) exhibit remarkably conservative morphology and ecology. Limited trait variations occur within and between species, and cryptic species have been reported among sister and non-sister taxa, suggesti...

  • Article
  • Open Access
10 Citations
4,534 Views
19 Pages

Characterization of De Novo Promoter Variants in Autism Spectrum Disorder with Massively Parallel Reporter Assays

  • Justin Koesterich,
  • Joon-Yong An,
  • Fumitaka Inoue,
  • Ajuni Sohota,
  • Nadav Ahituv,
  • Stephan J. Sanders and
  • Anat Kreimer

9 February 2023

Autism spectrum disorder (ASD) is a common, complex, and highly heritable condition with contributions from both common and rare genetic variations. While disruptive, rare variants in protein-coding regions clearly contribute to symptoms, the role of...

  • Article
  • Open Access
4,066 Views
15 Pages

I employ autoethnography to undertake a broader scholarly inquiry on intergenerational relationships and transnational care shaped by global migration and aging. Specifically, I reflect on the dynamics of my relationship with my mother, beginning wit...

  • Case Report
  • Open Access
1 Citations
2,573 Views
12 Pages

Unambiguous Interpretation of the Pathogenicity of the GLA c.547+3A>G Variant Causing Fabry Disease

  • Mario Urtis,
  • Claudia Cavaliere,
  • Viviana Vilardo,
  • Chiara Paganini,
  • Alexandra Smirnova,
  • Carmelina Giorgianni,
  • Alessandro Di Toro,
  • Luisa Chiapparini,
  • Carlo Pellegrini and
  • Maurizia Grasso
  • + 1 author

17 September 2024

Objectives: This study aims to demonstrate the role of case-level American College of Medical Genetics (ACMG) criteria, such as familial segregation and pathology data, in providing conclusive evidence for the pathogenicity of ultrarare GLA variants...

  • Article
  • Open Access
38 Citations
8,083 Views
26 Pages

Genomic Differentiation during Speciation-with-Gene-Flow: Comparing Geographic and Host-Related Variation in Divergent Life History Adaptation in Rhagoletis pomonella

  • Meredith M. Doellman,
  • Gregory J. Ragland,
  • Glen R. Hood,
  • Peter J. Meyers,
  • Scott P. Egan,
  • Thomas H. Q. Powell,
  • Peter Lazorchak,
  • Mary M. Glover,
  • Cheyenne Tait and
  • Hannes Schuler
  • + 5 authors

18 May 2018

A major goal of evolutionary biology is to understand how variation within populations gets partitioned into differences between reproductively isolated species. Here, we examine the degree to which diapause life history timing, a critical adaptation...

  • Feature Paper
  • Article
  • Open Access
2 Citations
2,258 Views
11 Pages

Utilizing a Population-Genetic Framework to Test for Gene-Environment Interactions between Zebrafish Behavior and Chemical Exposure

  • Preethi Thunga,
  • Lisa Truong,
  • Yvonne Rericha,
  • Jane La Du,
  • Mackenzie Morshead,
  • Robyn L. Tanguay and
  • David M. Reif

9 December 2022

Individuals within genetically diverse populations display broad susceptibility differences upon chemical exposures. Understanding the role of gene-environment interactions (GxE) in differential susceptibility to an expanding exposome is key to prote...

  • Article
  • Open Access
3 Citations
2,250 Views
13 Pages

Population Study Reveals Genetic Variation and Introgression of Four Deciduous Oaks at the Junction between Taihang Mountain and Yanshan Mountain

  • Ziqi Pei,
  • Qinsong Yang,
  • Xining Chen,
  • Yu Zong,
  • Jinjin Li,
  • Xiong Yang,
  • Chenrui Huo,
  • Yixin Chen,
  • Na Luo and
  • Jialu Kang
  • + 6 authors

8 October 2022

Oaks (Quercus spp.) are considered model plants for studying plant evolution and natural gene introgression. Beijing area is at the junction between Taihang Mountain and Yanshan Mountain, and it is an overlapping distribution area of several deciduou...

  • Article
  • Open Access
5 Citations
4,049 Views
14 Pages

29 May 2021

A long-term reciprocal garden study was used to determine adaptive variation between Cycas micronesica K.D. Hill plants from north versus south Guam. Half-siblings from each location were planted as one-leaf seedlings in north and south gardens and m...

  • Review
  • Open Access
125 Citations
7,801 Views
14 Pages

Epithelial-to-mesenchymal transition (EMT) programs contribute to the acquisition of invasive properties that are essential for metastasis. It is well established that EMT programs alter cell state and promote invasive behavior. This review discusses...

  • Article
  • Open Access
1,930 Views
16 Pages

5 May 2023

Web page segmentation is one of the most influential factors for the automated integration of web page content with other systems. Existing solutions are focused on segmentation but do not provide a more detailed description of the segment including...

  • Article
  • Open Access
13 Citations
4,123 Views
13 Pages

20 June 2022

Intellectual disability (ID) and autism spectrum disorder (ASD) are complex neurodevelopmental disorders with high heritability. To search for the genetic deficits in two siblings affected with ID and ASD in a family, we first performed a genome-wide...

  • Article
  • Open Access
4 Citations
2,836 Views
15 Pages

20 August 2022

The genetic diversity of natural populations is a key factor in the success of long-term ecosystem protection. We studied the genetic diversity and spatial genetic structure (SGS) in three endangered shrub birch (Betula humilis) populations using sev...

  • Article
  • Open Access
1 Citations
2,239 Views
12 Pages

15 November 2023

Advances in vaccinology have resulted in various new vaccines being introduced into recommended immunization schedules. Armenia introduced the rotavirus vaccine (RV) and the pneumococcal conjugate vaccine (PCV) into its national schedule in 2012 and...

  • Article
  • Open Access
5 Citations
2,568 Views
23 Pages

Finding Phenotypic Biomarkers for Drought Tolerance in Solanum tuberosum

  • Karin I. Köhl,
  • Gedif Mulugeta Aneley and
  • Manuela Haas

25 May 2023

Climate change models predict increased drought frequencies. Maintaining yield stability necessitates drought-tolerant crops. However, their breeding is challenging; drought tolerance is a multigene trait with significant environment interaction. Thu...

  • Article
  • Open Access
781 Views
19 Pages

Towards Introgression Between Watermelon (Citrullus lanatus) and Its Wild Relative, Bitter Apple (C. colocynthis)

  • Lana W. Al-Qadumii,
  • Monther T. Sadder,
  • Bayan Alkharabsheh,
  • Samih Y. Salem,
  • Mohammad S. Salem and
  • Karam Bani-Yaseen

The genetic diversity of cultivated crops is limited, largely as a result of domestication bottlenecks and the selective pressures imposed during modern breeding. An introgression cross was initiated by mating bitter apple (Citrullus colocynthis), as...

  • Article
  • Open Access
1,492 Views
13 Pages

29 June 2024

Objective: This study examines the current status and variations in creativity between migrant and urban children, exploring the influencing factors affecting creativity. Methods: We selected children from local households in Hangzhou City and non-lo...

  • Article
  • Open Access
5 Citations
1,804 Views
12 Pages

30 May 2023

This study was carried out to estimate the effect of crown closure classes (degraded forest, low crown coverage, medium crown coverage, and full crown coverage) and growth characteristics (three heights, diameter at base, diameter at breast height, a...

  • Article
  • Open Access
1,928 Views
13 Pages

8 November 2024

In this study, we evaluated the contribution of the putative genetic factors into the established associations between selected circulating adipokine levels, body composition measurements, and low-back-pain-related disability scores (LBP_DS). A total...

  • Review
  • Open Access
12 Citations
3,606 Views
29 Pages

26 October 2022

Diabetes Mellitus (DM) is a complex disease with a significant impact in today’s world. Studies have emphasized the crucial role of genetics in DM, unraveling the distinction of monogenic diabetes from the most common types that have been recog...

  • Article
  • Open Access
8 Citations
4,338 Views
9 Pages

23 July 2019

Two sibling weevil species, Pissodes strobi Peck and P. nemorensis Germar (Coleoptera: Curculionidae), can form reduced-fitness hybrids in the laboratory, but neither their premating isolation mechanisms nor mating behaviors are well-understood. Cuti...

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