Gianpiero L. Cavalleri
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View article: #2784 Exploring the role of mitochondrial genomic variants and haplogroups in clinical phenotypes of polycystic kidney disease
#2784 Exploring the role of mitochondrial genomic variants and haplogroups in clinical phenotypes of polycystic kidney disease Open
Background and Aims Polycystic kidney disease (PKD) is characterized by cyst development and kidney enlargement, inducing progressive kidney failure. Cystic cells appear to shift towards a metabolic state resembling tumours, but the mechan…
View article: #1154 Detecting MUC1 VNTR variants using VNtyper in Irish patients
#1154 Detecting MUC1 VNTR variants using VNtyper in Irish patients Open
Background and Aims Autosomal dominant tubulointerstitial kidney disease MUC1 (ADTKD-MUC1) is a rare genetic cause of renal impairment resulting from specific frameshift variants in the coding variable number tandem repeats (VNTR) of the M…
View article: Long-Read Sequencing of the <i>MUC1</i> VNTR: Genomic Variation, Mutational Landscape, and Its Impact on ADTKD Diagnosis and Progression
Long-Read Sequencing of the <i>MUC1</i> VNTR: Genomic Variation, Mutational Landscape, and Its Impact on ADTKD Diagnosis and Progression Open
Background ADTKD- MUC1 is caused by frameshift mutations in MUC1 gene that produce a frameshifted protein (MUC1fs) toxic to kidney cells. The gene’s variable number of tandem repeats (VNTR), with high GC content, makes it largely inaccessi…
View article: Changes in Gray Matter Morphology and White Matter Microstructure Across the Adult Lifespan in People With Temporal Lobe Epilepsy
Changes in Gray Matter Morphology and White Matter Microstructure Across the Adult Lifespan in People With Temporal Lobe Epilepsy Open
This study highlights that patients with TLE exhibit more pronounced and widespread gray and white matter atrophy across the lifespan. The cross-sectional nature of our study limits definitive conclusions on whether the atrophy shown is pr…
View article: Predicting Drug Response with Multi-Task Gradient-Boosted Trees in Epilepsy
Predicting Drug Response with Multi-Task Gradient-Boosted Trees in Epilepsy Open
Motivation Despite the availability of numerous anti-seizure medications (ASMs), drug resistance remains a major issue for people with epilepsy. The probability of achieving seizure freedom diminishes with each unsuccessful drug trial, and…
View article: The gut microbiome associated with <scp>LGI1</scp> ‐antibody encephalitis
The gut microbiome associated with <span>LGI1</span> ‐antibody encephalitis Open
Objective Autoimmune encephalitis is a cause of brain inflammation characterized by auto‐antibodies, which target cell surface neuronal proteins and lead to neuronal dysfunction. The most common form is associated with auto‐antibodies to l…
View article: Adaptive PRKAA1 variant in Andeans is associated with improved ventilation and sleep phenotypes
Adaptive PRKAA1 variant in Andeans is associated with improved ventilation and sleep phenotypes Open
View article: Characterization of Monogenic Kidney Disease in Older Patients With CKD
Characterization of Monogenic Kidney Disease in Older Patients With CKD Open
View article: Genome-wide association meta-analyses of drug-resistant epilepsy
Genome-wide association meta-analyses of drug-resistant epilepsy Open
This work is part of the European Union's Seventh Framework Programme (FP7/2007-2013) under grant agreement n° 279062 (EpiPGX) and the Centers for Common Disease Genomics (CCDG) program, funded by the National Human Genome Research Institu…
View article: Donor and Recipient Polygenic Risk Scores Influence Kidney Transplant Function
Donor and Recipient Polygenic Risk Scores Influence Kidney Transplant Function Open
Kidney transplant outcomes are influenced by donor and recipient age, sex, HLA mismatch, donor type, anti-rejection medication adherence and disease recurrence, but variability in transplant outcomes remains unexplained. We hypothesise tha…
View article: Polygenic risk scores for eGFR are associated with age at kidney failure
Polygenic risk scores for eGFR are associated with age at kidney failure Open
View article: A genetic perspective on the recent demographic history of Ireland and Britain
A genetic perspective on the recent demographic history of Ireland and Britain Open
While subtle yet discrete clusters of genetic identity across Ireland and Britain have been identified, their recent demographic history is unclear. Using genotype data from 6574 individuals with associated regional Irish or British ancest…
View article: The impact of a secondary, rare, non-pathogenic PKD1 variant on disease progression in autosomal dominant polycystic kidney disease
The impact of a secondary, rare, non-pathogenic PKD1 variant on disease progression in autosomal dominant polycystic kidney disease Open
Background Autosomal dominant polycystic kidney disease (ADPKD) is caused primarily by pathogenic variants in the PKD1 and PKD2 genes. Although the type of ADPKD variant can influence disease severity, rare, hypomorphic PKD1 variants have …
View article: Adaptive Prkaa1 Variant in Andeans is Associated with Improved Ventilation and Sleep Phenotypes
Adaptive Prkaa1 Variant in Andeans is Associated with Improved Ventilation and Sleep Phenotypes Open
View article: Characterization of Y chromosome diversity in newfoundland and labrador: evidence for a structured founding population
Characterization of Y chromosome diversity in newfoundland and labrador: evidence for a structured founding population Open
View article: Response to ”Understanding Familial Variability in ADPKD: a Comprehensive Approach Integrating Genetics, Hormones, and Lifestyle for Tailored Management”
Response to ”Understanding Familial Variability in ADPKD: a Comprehensive Approach Integrating Genetics, Hormones, and Lifestyle for Tailored Management” Open
View article: Corroborating written history with ancient DNA: The case of the Well-man described in an Old Norse saga
Corroborating written history with ancient DNA: The case of the Well-man described in an Old Norse saga Open
View article: Big data research is everyone's research—Making epilepsy data science accessible to the global community: Report of the <scp>ILAE</scp> big data commission
Big data research is everyone's research—Making epilepsy data science accessible to the global community: Report of the <span>ILAE</span> big data commission Open
Epilepsy care generates multiple sources of high‐dimensional data, including clinical, imaging, electroencephalographic, genomic, and neuropsychological information, that are collected routinely to establish the diagnosis and guide managem…
View article: Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes Open
View article: Similarity of Phenotype in Three Male Patients With the c.<scp>320A</scp>>G Variant in <i>ALG13</i>: Possible Genotype–Phenotype Correlation
Similarity of Phenotype in Three Male Patients With the c.<span>320A</span>>G Variant in <i>ALG13</i>: Possible Genotype–Phenotype Correlation Open
Background Congenital disorders of glycosylation (CDG) are a group of neurometabolic diseases that result from genetic defects in the glycosylation of proteins and/or lipids. Multiple pathogenic genes contribute to the varying reported phe…
View article: A genetic perspective on the recent demographic history of Ireland and Britain
A genetic perspective on the recent demographic history of Ireland and Britain Open
While subtle yet discrete clusters of genetic identity across Ireland and Britain have been identified, their demographic history is unclear. Using genotype data from 6,574 individuals with associated regional Irish or British ancestry, we…
View article: All hands on deck during the COVID-19 pandemic. Maintaining face-to-face medical education and clinical placements
All hands on deck during the COVID-19 pandemic. Maintaining face-to-face medical education and clinical placements Open
Medical students must have robust educational experiences, graduate and commence timely employment. Here, we describe how the Royal College of Surgeons in Ireland (RCSI) delivered clinical placements in medical programmes over the first th…
View article: Donor genetic burden for cerebrovascular risk and kidney transplant outcome
Donor genetic burden for cerebrovascular risk and kidney transplant outcome Open
Background and hypothesis Kidney grafts from donors who died of stroke and related traits have worse outcomes relative to grafts from both living donors and those who died of other causes. We hypothesise that deceased donors, particularly …
View article: #2412 Monoallelic NEK8-related polycystic kidney disease in an Irish ADPKD cohort
#2412 Monoallelic NEK8-related polycystic kidney disease in an Irish ADPKD cohort Open
Background and Aims Autosomal dominant polycystic kidney disease (ADPKD), commonly caused by pathogenic variants in PKD1 and PKD2 genes, leads to enlarged cystic kidneys and typically present in adulthood where ∼70% of affected patients pr…
View article: A Novel Monoallelic ALG5 Variant Causing Late-Onset ADPKD and Tubulointerstitial Fibrosis
A Novel Monoallelic ALG5 Variant Causing Late-Onset ADPKD and Tubulointerstitial Fibrosis Open
View article: Somatic variants as a cause of drug‐resistant epilepsy including mesial temporal lobe epilepsy with hippocampal sclerosis
Somatic variants as a cause of drug‐resistant epilepsy including mesial temporal lobe epilepsy with hippocampal sclerosis Open
Objective The contribution of somatic variants to epilepsy has recently been demonstrated, particularly in the etiology of malformations of cortical development. The aim of this study was to determine the diagnostic yield of somatic varian…
View article: A genetic perspective on the recent demographic history of Ireland and Britain
A genetic perspective on the recent demographic history of Ireland and Britain Open
Background While subtle yet discrete clusters of genetic identity across Ireland and Britain have been identified, their demographic history is unclear. Methods Using genotype data from 6,574 individuals with associated regional Irish or B…
View article: A worldwide ENIGMA study on epilepsy-related gray and white matter compromise across the adult lifespan
A worldwide ENIGMA study on epilepsy-related gray and white matter compromise across the adult lifespan Open
Objectives Temporal lobe epilepsy (TLE) is commonly associated with mesiotemporal pathology and widespread alterations of grey and white matter structures. Evidence supports a progressive condition although the temporal evolution of TLE is…
View article: Functional <i>EPAS1</i> / <i>HIF2A</i> missense variant is associated with hematocrit in Andean highlanders
Functional <i>EPAS1</i> / <i>HIF2A</i> missense variant is associated with hematocrit in Andean highlanders Open
Hypoxia-inducible factor pathway genes are linked to adaptation in both human and nonhuman highland species. EPAS1 , a notable target of hypoxia adaptation, is associated with relatively lower hemoglobin concentration in Tibetans. We provi…
View article: Cerebral autoregulation in traumatic brain injury: ultra-low-frequency pressure reactivity index and intracranial pressure across age groups
Cerebral autoregulation in traumatic brain injury: ultra-low-frequency pressure reactivity index and intracranial pressure across age groups Open