Understanding how observed phenotype frequencies relate to underlying genetic variation remains a central challenge in population genetics. Traditional approaches are primarily statistical or based on machine learning and often lack a unified analyti...
Phenotype transformation in pituitary neuroendocrine tumors is a little-known and unpredictable clinical phenomenon. Previous studies have not clearly defined and systematically concluded on the causes of this rare phenomenon. Additionally, the mecha...
Hovenia acerba is a high-value multipurpose tree with edible, medicinal, and timber applications. However, systematic investigations of phenotypic variation, phenotypic diversity, and phenotype–environment associations for H. acerba germplasm i...
Neurofibromatosis type 1 (NF1) is one of the most common genetic tumor predisposition syndrome, caused by mutations in the NF1. To date, few genotype-phenotype correlations have been discerned in NF1, due to a highly variable clinical presentation. W...
The integration of phenotypes and genotypes is at an unprecedented level and offers new opportunities to establish deep phenotypes. There are a number of challenges to overcome, specifically, accelerated growth of data, data silos, incompleteness, in...
Metastasis remains an unsolved clinical challenge. Two crucial features of metastasizing cancer cells are (a) their ability to dynamically move along the epithelial–hybrid–mesenchymal spectrum and (b) their tumor initiation potential or s...
The conventional understanding of phenotype is as a derivative of descent with modification through Darwinian random mutation and natural selection. Recent research has revealed Lamarckian inheritance as a major transgenerational mechanism for enviro...
The effects of spaceflight, including prolonged exposure to microgravity, can have significant effects on the immune system and human health. Altered immune cell function can lead to adverse health events, though precisely how and to what extent a mi...
Hereditary hemorrhagic telangiectasia (HHT), a rare autosomal dominant disease mostly caused by mutations in three known genes (ENG, ACVRL1, and SMAD4), is characterized by the development of vascular malformations (VMs). Patients with HHT may presen...
Background/Objectives: The diagnostic assessment of soft and hard tissues surrounding the teeth, including gingival phenotype analysis, is critical for clinicians. Since multiple methods for evaluating gingival phenotype have been reported, determini...
Angelman syndrome (AS) is a rare neurodevelopmental disease that is caused by the loss of function of the maternal copy of ubiquitin–protein ligase E3A (UBE3A) on the chromosome 15q11–13 region. AS is characterized by global developmental delay, seve...
The prevalence of obesity and associated cardiometabolic diseases continues to rise, despite efforts to improve global health. The adipose tissue is now regarded as an endocrine organ since its multitude of secretions, lipids chief among them, regula...
The concept of gingival phenotype and width of keratinized gingiva influencing the diagnosis and treatment in the periodontal scenario is relatively new. Soft and hard tissue dimensions of oral tissues are considered essential parameters in daily cli...
Background: Preeclampsia is a heterogeneous multisystem disorder characterized by endothelial dysfunction and angiogenic imbalance. While the sFlt-1/PlGF ratio is widely used for diagnostic purposes, its role in defining biological phenotypes of pree...
The clinical manifestations of β-thalassemia are extremely heterogeneous, ranging from severe transfusion-dependent anemia, to the mild non transfusion dependent thalassemia intermedia and to the asymptomatic carrier state. The remarkable phenotypic...
To address the problem of low efficiency and automatically sense the phenotypic characteristics of wheat seeds, a wheat seed phenotype detection device was designed to predict thousand seed weight. Five commonly used varieties of wheat seeds were sel...
Purpose: Torticollis is not of uncommon occurrence in orthopaedic departments. Various theories and studies concerning the pathogenesis of the deformity have been suggested. We aimed to highlight and discuss the underlying cervical and spine malforma...
Background/Objectives: Hypertrophic cardiomyopathy (HCM) is an inherited disease with genetic and phenotypic variability and an unclear genotype–clinical course relationship. The aim of our study was to assess the phenotypic and molecular chara...
Background/Aim: Albuminuria is a clinical marker associated with microvascular involvement and an independent predictor of cardiovascular risk. Polycystic ovary syndrome (PCOS) is associated with early metabolic and vascular abnormalities; however, w...
We investigated whether Father Christmas has a distinguishable facial phenotype by performing a cross-sectional cohort study examining the facial feature vectors of all publicly available photographs obtained from a google image search of individuals...
Background: Frailty is an important factor in the quality of life, because physical functions decrease with increasing frailty and cannot return to their previous state. This can lead to falls, hospitalization, dependency, and early mortality. Howeve...
Most human birth defects are phenotypically variable even when they share a common genetic basis. Our understanding of the mechanisms of this variation is limited, but they are thought to be due to complex gene-environment interactions. Loss of the t...
Introduction: Bronchiectasis is a chronic progressive respiratory disease characterized by permanent dilatation of the bronchi. It is a complex condition with numerous different etiologies, co-morbidities, and a heterogeneous presentation. As we know...
Abnormalities in gut microbiota diversity are considered important mechanisms in metabolic disorders in polycystic ovarian syndrome (PCOS). However, the data on the association of these disorders with the PCOS phenotype remain controversial. The obje...
Background: We describe patients who were recognized via conventional radiographs of the skull as manifesting wormian bones. Wormian bones are not a specific diagnostic entity and can be seen in variable forms of syndromic disorders. Materials and Me...
Melanoma is considered one of the deadliest skin cancers, partly because of acquired resistance to standard therapies. The most recognized driver of resistance relies on acquired melanoma cell plasticity, or the ability to dynamically switch among di...
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...
Fatigue is not only a widespread subjective experience but also a complex physiological and pathological state involving multiple organs and systems. Currently, there is no consensus on the definition and classification of fatigue. Based on its cause...
Primary ciliary dyskinesia (PCD) is a rare inherited condition affecting motile cilia and leading to organ laterality defects, recurrent sino-pulmonary infections, bronchiectasis, and severe lung disease. Research over the past twenty years has revea...
Objectives: Dementia is becoming a major health problem in the world, and chronic brain ischemia is an established important risk factor in predisposing this disease. Astrocytes, as one major part of the blood–brain barrier (BBB), are activated...
Background: Prader-Willi syndrome (PWS) is a rare genetic disorder resulting from the lack of expression of the PWS region (locus q11-q13) on the paternally derived chromosome 15, as a result of a type I or II paternal deletion (50%), maternal unipar...
Alkaptonuria (AKU) is a rare autosomal recessive disorder caused by mutations within a gene coding for homogentisate 1,2-dioxygenase (HGD). To date, 251 different variants of this gene have been reported. The metabolic disorder in AKU leads to the ac...
Introduction/Objectives: Osteoarthritis (OA) is a chronic systemic disease that affects the entire array of joint structures. It is one of the most common chronic, socially significant diseases, associated with a decline in the quality of life of pat...
Asthma is a heterogeneous disease in terms of both phenotype and response to therapy. Therefore, there is a great need for clinically applicable tools allowing for improved patient classification, and selection for specific management approaches. Som...
A one-size-fits-all approach to fall risk assessment in older adults has critical limitations. This study aimed to overcome this by identifying distinct gait phenotypes and their specific fall mechanisms using foot-mounted IMU waveform data from 146...
In recent years, immunohistochemical protein expression was studied as a surrogate to the molecular classification of bladder cancer, although no tissue biomarkers are available for clinical use to predict survival or the response to neoadjuvant chem...
Pentraxin 3 [PTX3] is an acute-phase protein playing an important role in the regulation of the humoral arm of immune response. As one of the molecules from the conservative family of pentraxins, PTX3 is a soluble mediator involved in the transductio...
Melanoma, a highly heterogeneous tumor, is comprised of a functionally diverse spectrum of cell phenotypes and subpopulations, including stromal cells in the tumor microenvironment (TME). Melanoma has been shown to dynamically shift between different...
Background: Monoallelic damaging variants in PHIP (MIM*612870), encoding the Pleckstrin Homology Domain Interacting Protein, have been associated with a novel neurodevelopmental disorder, also termed Chung–Jansen syndrome (CHUJANS, MIM#617991)....
Arteriogenesis is one of the primary physiological means by which the circulatory collateral system restores blood flow after significant arterial occlusion in peripheral arterial disease patients. Vascular smooth muscle cells (VSMCs) are the predomi...
ASD genetic diagnosis has dramatically improved due to NGS technologies, and many new causative genes have been discovered. Consequently, new ASD phenotypes have emerged. An extensive exome sequencing study carried out by the Autism Sequencing Consor...
Rapid radiation associated with phenotypic divergence and convergence provides an opportunity to study the genetic mechanisms of evolution. Here we investigate the genus Takifugu that has undergone explosive radiation relatively recently and contains...
Spectral imaging technique has been widely applied in plant phenotype analysis to improve plant trait selection and genetic advantages. The latest developments and applications of various optical imaging techniques in plant phenotypes were reviewed,...
Objective: Cardiofaciocutaneous syndrome (CFCS) is a rare developmental disorder caused by upregulated signaling through the RAS-mitogen-activated protein kinase (MAPK) pathway, mostly resulting from de novo activating BRAF mutations. Children with C...
Background: Breast cancer exhibits marked molecular and phenotypic heterogeneity, with important implications for prognosis and therapeutic response. Although magnetic resonance imaging (MRI) is widely used for detection and staging, its potential ro...
Background: The presence of light-pigmented facial stripes, parallel on both sides of the cranial region, is a widespread characteristic in various goat breeds of European origin and beyond. In Italy, this phenotype is relatively common from the nort...
Understanding macrophage responses to biomaterials is crucial to the success of implanted medical devices, tissue engineering scaffolds, and drug delivery vehicles. Cellular responses to materials may depend synergistically on multiple surface chemis...
Neurofibromatosis type 1 (NF1) is an autosomal dominant neurocutaneous disorder caused by loss-of-function variants in the NF1 gene. As of 20 November 2023, over 5000 distinct pathogenic or likely pathogenic variants have been reported in public data...
Complete deletion of the NF1 gene is identified in 5–10% of patients with neurofibromatosis type 1 (NF1). Several studies have previously described particularly severe forms of the disease in NF1 patients with deletion of the NF1 locus, but comprehen...
Establishing accurate and large-scale genotype–phenotype correlations and predictions of individual response to pharmacological treatments are two of the holy grails of Personalized Medicine. These tasks are challenging and require an integrated know...
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