LIVIVO - Search results -

Search results

Result 1 - 10 of total 92

Search options

Article ; Online: ParseCNV2: a versatile and integrated tool for copy number variation association studies.

Lim, Tze Y / Verbitsky, Miguel / Sanna-Cherchi, Simone

European journal of human genetics : EJHG

2023 Volume 31, Issue 3, Page(s) 275–277

MeSH term(s)	Humans ; DNA Copy Number Variations ; Genome-Wide Association Study ; Gene Dosage
Language	English
Publishing date	2023-01-11
Publishing country	England
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Comment
ZDB-ID	1141470-4
ISSN	1476-5438 ; 1018-4813
ISSN (online)	1476-5438
ISSN	1018-4813
DOI	10.1038/s41431-022-01280-x
Database	MEDical Literature Analysis and Retrieval System OnLINE

Full text online

Accessible to users with ZB MED library card

In stock of ZB MED Cologne/Königswinter

Zs.A 3589: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (2.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.

Details ▾

Article ; Online: APOL1

Gbadegesin, Rasheed / Martinelli, Elena / Gupta, Yask / Friedman, David J / Sampson, Matthew G / Pollak, Martin R / Sanna-Cherchi, Simone

Glomerular diseases

2024 Volume 4, Issue 1, Page(s) 43–48

Language	English
Publishing date	2024-02-20
Publishing country	Switzerland
Document type	Journal Article
ISSN	2673-3633
ISSN (online)	2673-3633
DOI	10.1159/000537948
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

Inter-library loan at ZB MED

Your chosen title can be delivered directly to ZB MED Cologne location if you are registered as a user at ZB MED Cologne.

Article ; Online: Phenocopies, Phenotypic Expansion, and Coincidental Diagnoses: Time to Abandon Targeted Gene Panels?

Ahram, Dina F / Aggarwal, Vimla S / Sanna-Cherchi, Simone

American journal of kidney diseases : the official journal of the National Kidney Foundation

2020 Volume 76, Issue 4, Page(s) 451–453

MeSH term(s)	Exome ; High-Throughput Nucleotide Sequencing ; Humans ; Phenotype
Language	English
Publishing date	2020-08-15
Publishing country	United States
Document type	Editorial ; Comment
ZDB-ID	604539-x
ISSN	1523-6838 ; 0272-6386
ISSN (online)	1523-6838
ISSN	0272-6386
DOI	10.1053/j.ajkd.2020.07.003
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 1669: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (1.OG) ab Jg. 2022: Lesesaal (EG)
Zs.MO 468: Show issues

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article ; Online: Thrombosis Risk in Double Heterozygous Carriers of Factor V Leiden and Prothrombin G20210A in FinnGen and the UK Biobank.

Ryu, Justine / Rämö, Joel T / Jurgens, Sean Joseph / Niiranen, Teemu / Sanna-Cherchi, Simone / Bauer, Kenneth A / Haj, Amelia / Choi, Seung Hoan / Palotie, Aarno / Daly, Mark / Ellinor, Patrick T / Bendapudi, Pavan K

Blood

2024

Abstract: The Factor V Leiden (FVL, rs6025) and prothrombin G20210A (PTGM, rs1799963) polymorphisms are two of the most well-studied genetic risk factors for venous thromboembolism (VTE). However, double heterozygosity (DH) for FVL and PTGM remains poorly ... ...

Abstract	The Factor V Leiden (FVL, rs6025) and prothrombin G20210A (PTGM, rs1799963) polymorphisms are two of the most well-studied genetic risk factors for venous thromboembolism (VTE). However, double heterozygosity (DH) for FVL and PTGM remains poorly understood, with prior studies in marked disagreement about the thrombosis risk conferred by the DH genotype. Utilizing multi-dimensional data from the UK Biobank (UKB) and the FinnGen biorepositories, we evaluated the clinical impact of DH carrier status across 937,939 individuals. We found that 662 participants (0.07%) were DH carriers. After adjustment for age, sex, and ancestry, DH individuals experienced a markedly elevated risk of VTE compared to wild-type individuals (OR=5.24, 95% CI: 4.01 - 6.84; P=4.8 x 10-34), which approximated the risk conferred by FVL homozygosity. A secondary analysis restricted to UKB participants (N=445,144) found that effect size estimates for the DH genotype remained largely unchanged (OR=4.53, 95% CI: 3.42 - 5.90; P<1 x 10-16) after adjustment for commonly cited VTE risk factors such as body mass index, blood type, and markers of inflammation. By contrast, the DH genotype was not associated with a significantly higher risk of any arterial thrombosis phenotype, including stroke, myocardial infarction, and peripheral artery disease. In summary, we leveraged population-scale genomic datasets to conduct the largest study to date of the DH genotype and were able to establish far more precise effect size estimates than previously possible. Our findings indicate that the DH genotype may occur as frequently as FVL homozygosity and confers a similarly increased risk of VTE.
Language	English
Publishing date	2024-03-18
Publishing country	United States
Document type	Journal Article
ZDB-ID	80069-7
ISSN	1528-0020 ; 0006-4971
ISSN (online)	1528-0020
ISSN	0006-4971
DOI	10.1182/blood.2023023326
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Uh III Zs.140: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular ab Jg. 2022: Lesesaal (EG)
Zs.MO 364: Show issues

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article ; Online: Incorporating genetics services into adult kidney disease care.

Bogyo, Kelsie / Vena, Natalie / May, Halie / Rasouly, Hila Milo / Marasa, Maddalena / Sanna-Cherchi, Simone / Kiryluk, Krzysztof / Nestor, Jordan / Gharavi, Ali

American journal of medical genetics. Part C, Seminars in medical genetics

2022 Volume 190, Issue 3, Page(s) 289–301

Abstract: Studies have shown that as many as 1 in 10 adults with chronic kidney disease has a monogenic form of disease. However, genetic services in adult nephrology are limited. An adult Kidney Genetics Clinic was established within the nephrology division at a ... ...

Abstract	Studies have shown that as many as 1 in 10 adults with chronic kidney disease has a monogenic form of disease. However, genetic services in adult nephrology are limited. An adult Kidney Genetics Clinic was established within the nephrology division at a large urban academic medical center to increase access to genetic services and testing in adults with kidney disease. Between June 2019 and December 2021, a total of 363 patients were referred to the adult Kidney Genetics Clinic. Of those who completed genetic testing, a positive diagnostic finding was identified in 27.1%, a candidate diagnostic finding was identified in 6.7% of patients, and a nondiagnostic positive finding was identified in an additional 8.6% of patients, resulting in an overall yield of 42.4% for clinically relevant genetic findings in tested patients. A genetic diagnosis had implications for medical management, family member testing, and eligibility for clinical trials. With the utilization of telemedicine, genetic services reached a diverse geographic and patient population. Genetic education efforts were integral to the clinic's success, as they increased visibility and helped providers identify appropriate referrals. Ongoing access to genomic services will remain a fundamental component of patient care in adults with kidney disease.
MeSH term(s)	Adult ; Humans ; Genetic Services ; Nephrology/methods ; Genetic Testing/methods ; Referral and Consultation ; Renal Insufficiency, Chronic/diagnosis ; Renal Insufficiency, Chronic/genetics ; Renal Insufficiency, Chronic/therapy
Language	English
Publishing date	2022-09-26
Publishing country	United States
Document type	Journal Article
ZDB-ID	2108622-9
ISSN	1552-4876 ; 0148-7299 ; 1552-4868
ISSN (online)	1552-4876
ISSN	0148-7299 ; 1552-4868
DOI	10.1002/ajmg.c.32004
Database	MEDical Literature Analysis and Retrieval System OnLINE

Full text online

Accessible to users with ZB MED library card

In stock of ZB MED Cologne/Königswinter

Zs.A 1376/C: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (1.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾

Article ; Online: The expanded spectrum of human disease associated with GREB1L likely includes complex congenital heart disease.

Zhao, Emily / Bomback, Miles / Khan, Atlas / Krishna Murthy, Sarath / Solowiejczyk, David / Vora, Neeta L / Gilmore, Kelly L / Giordano, Jessica L / Wapner, Ronald J / Sanna-Cherchi, Simone / Lyford, Alex / Jelin, Angie C / Gharavi, Ali G / Hays, Thomas

Prenatal diagnosis

2024 Volume 44, Issue 3, Page(s) 343–351

Abstract: Objective: GREB1L has been linked prenatally to Potter's sequence, as well as less severe anomalies of the kidney, uterus, inner ear, and heart. The full phenotypic spectrum is unknown. The purpose of this study was to characterize known and novel pre- ... ...

Abstract	Objective: GREB1L has been linked prenatally to Potter's sequence, as well as less severe anomalies of the kidney, uterus, inner ear, and heart. The full phenotypic spectrum is unknown. The purpose of this study was to characterize known and novel pre- and postnatal phenotypes associated with GREB1L. Methods: We solicited cases from the Fetal Sequencing Consortium, screened a population-based genomic database, and conducted a comprehensive literature search to identify disease cases associated with GREB1L. We present a detailed phenotypic spectrum and molecular changes. Results: One hundred twenty-seven individuals with 51 unique pathogenic or likely pathogenic GREB1L variants were identified. 24 (47%) variants were associated with isolated kidney anomalies, 19 (37%) with anomalies of multiple systems, including one case of hypoplastic left heart syndrome, five (10%) with isolated sensorineural hearing loss, two (4%) with isolated uterine agenesis; and one (2%) with isolated tetralogy of Fallot. Conclusion: GREB1L may cause complex congenital heart disease (CHD) in humans. Clinicians should consider GREB1L testing in the setting of CHD, and cardiac screening in the setting of GREB1L variants.
MeSH term(s)	Female ; Humans ; Heart Defects, Congenital/epidemiology ; Heart Defects, Congenital/genetics ; Kidney/abnormalities ; Kidney Diseases/congenital ; Neoplasm Proteins/genetics ; Urogenital Abnormalities/genetics
Chemical Substances	Neoplasm Proteins ; GREB1L protein, human
Language	English
Publishing date	2024-01-29
Publishing country	England
Document type	Journal Article
ZDB-ID	82031-3
ISSN	1097-0223 ; 0197-3851
ISSN (online)	1097-0223
ISSN	0197-3851
DOI	10.1002/pd.6527
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 1625: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (1.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article ; Online: Le Basi Genetiche delle Malformazioni Congenite dei Reni e delle Vie Urinarie.

Bodria, Monica / Sanna-Cherchi, Simone

Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia

2015 Volume 32 Suppl 64

Abstract: Congenital anomalies of the kidney and urinary tract (CAKUT) occur have an incidence of about 1% and they are one of the most common birth defects. CAKUT is the most common cause of end stage renal disease in children, leading to high morbidity and ... ...

Title translation	Genetic Basis of Congenital Anomalies of the Kidney and Urinary Tract.
Abstract	Congenital anomalies of the kidney and urinary tract (CAKUT) occur have an incidence of about 1% and they are one of the most common birth defects. CAKUT is the most common cause of end stage renal disease in children, leading to high morbidity and mortality in these patients. Recent studies indicate a strong genetic component in the determination of CAKUT. The genetic architecture of these malformations involves both point mutations and structural variants. The recent improvement in next-generation sequencing technologies resulted in a boost on discovery of new genes involved in CAKUT. Results from micro-array study have demonstrated that rare structural variants are an important source of genetic variation in patients with CAKUT. Moreover, these structural variants have been proven to be associated with developmental disorders that develop later in life, especially neurodevelopment diseases, such as autism, schizophrenia, epilepsy, intellectual disability, and others. The easy pre-natal diagnosis of CAKUT by ultrasound and the possibility of a rapid molecular diagnosis in a significant fraction of patients, implicate the kidney and urinary tract as new possible sentinels for other diseases that develop later in life, bearing strong implications for personalized medicine.
MeSH term(s)	Humans ; Mutation ; Urogenital Abnormalities/genetics ; Vesico-Ureteral Reflux/genetics
Language	Italian
Publishing date	2015
Publishing country	Italy
Document type	Journal Article ; Review
ZDB-ID	1237110-5
ISSN	1724-5990 ; 0393-5590
ISSN (online)	1724-5990
ISSN	0393-5590
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 4313: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (2.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article ; Online: Impact of diet and host genetics on the murine intestinal mycobiome.

Gupta, Yask / Ernst, Anna Lara / Vorobyev, Artem / Beltsiou, Foteini / Zillikens, Detlef / Bieber, Katja / Sanna-Cherchi, Simone / Christiano, Angela M / Sadik, Christian D / Ludwig, Ralf J / Sezin, Tanya

Nature communications

2023 Volume 14, Issue 1, Page(s) 834

Abstract: The mammalian gut is home to a diverse microbial ecosystem, whose composition affects various physiological traits of the host. Next-generation sequencing-based metagenomic approaches demonstrated how the interplay of host genetics, bacteria, and ... ...

Abstract	The mammalian gut is home to a diverse microbial ecosystem, whose composition affects various physiological traits of the host. Next-generation sequencing-based metagenomic approaches demonstrated how the interplay of host genetics, bacteria, and environmental factors shape complex traits and clinical outcomes. However, the role of fungi in these complex interactions remains understudied. Here, using 228 males and 363 females from an advanced-intercross mouse line, we provide evidence that fungi are regulated by host genetics. In addition, we map quantitative trait loci associated with various fungal species to single genes in mice using whole genome sequencing and genotyping. Moreover, we show that diet and its' interaction with host genetics alter the composition of fungi in outbred mice, and identify fungal indicator species associated with different dietary regimes. Collectively, in this work, we uncover an association of the intestinal fungal community with host genetics and a regulatory role of diet in this ecological niche.
MeSH term(s)	Male ; Female ; Animals ; Mice ; Mycobiome/genetics ; Ecosystem ; Diet ; Quantitative Trait Loci ; Bacteria/genetics ; Fungi/genetics ; Mammals/genetics
Language	English
Publishing date	2023-02-14
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2553671-0
ISSN	2041-1723 ; 2041-1723
ISSN (online)	2041-1723
ISSN	2041-1723
DOI	10.1038/s41467-023-36479-z
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

Article ; Online: Copy number variation analysis in 138 families with steroid-resistant nephrotic syndrome identifies causal homozygous deletions in PLCE1 and NPHS2 in two families.

Pantel, Dalia / Mertens, Nils D / Schneider, Ronen / Hölzel, Selina / Kari, Jameela A / Desoky, Sherif El / Shalaby, Mohamed A / Lim, Tze Y / Sanna-Cherchi, Simone / Shril, Shirlee / Hildebrandt, Friedhelm

Pediatric nephrology (Berlin, Germany)

2023 Volume 39, Issue 2, Page(s) 455–461

Abstract: Background: Steroid-resistant nephrotic syndrome (SRNS) is the second most common cause of kidney failure in children and adults under the age of 20 years. Previously, we were able to detect by exome sequencing (ES) a known monogenic cause of SRNS in 25- ...

Abstract	Background: Steroid-resistant nephrotic syndrome (SRNS) is the second most common cause of kidney failure in children and adults under the age of 20 years. Previously, we were able to detect by exome sequencing (ES) a known monogenic cause of SRNS in 25-30% of affected families. However, ES falls short of detecting copy number variants (CNV). Therefore, we hypothesized that causal CNVs could be detected in a large SRNS cohort. Methods: We performed genome-wide single nucleotide polymorphism (SNP)-based CNV analysis on a cohort of 138 SRNS families, in whom we previously did not identify a genetic cause through ES. We evaluated ES and CNV data for variants in 60 known SRNS genes and in 13 genes in which variants are known to cause a phenocopy of SRNS. We applied previously published, predefined criteria for CNV evaluation. Results: We detected a novel CNV in two genes in 2 out of 138 families (1.5%). The 9,673 bp homozygous deletion in PLCE1 and the 6,790 bp homozygous deletion in NPHS2 were confirmed across the breakpoints by PCR and Sanger sequencing. Conclusions: We confirmed that CNV analysis can identify the genetic cause in SRNS families that remained unsolved after ES. Though the rate of detected CNVs is minor, CNV analysis can be used when there are no other genetic causes identified. Causative CNVs are less common in SRNS than in other monogenic kidney diseases, such as congenital anomalies of the kidneys and urinary tract, where the detection rate was 5.3%. A higher resolution version of the Graphical abstract is available as Supplementary information.
MeSH term(s)	Adult ; Child ; Humans ; Young Adult ; DNA Copy Number Variations ; DNA Mutational Analysis ; Genetic Predisposition to Disease ; Homozygote ; Mutation ; Nephrotic Syndrome/drug therapy ; Nephrotic Syndrome/genetics ; Nephrotic Syndrome/congenital ; Sequence Deletion
Chemical Substances	phospholipase C epsilon (EC 3.1.4.11) ; NPHS2 protein
Language	English
Publishing date	2023-09-05
Publishing country	Germany
Document type	Journal Article
ZDB-ID	631932-4
ISSN	1432-198X ; 0931-041X
ISSN (online)	1432-198X
ISSN	0931-041X
DOI	10.1007/s00467-023-06134-2
Database	MEDical Literature Analysis and Retrieval System OnLINE

Full text online

Accessible to users with ZB MED library card

In stock of ZB MED Cologne/Königswinter

Zs.A 2196: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (1.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾

Article ; Online: Recessive mutations in CAKUT and VACTERL association.

Westland, Rik / Sanna-Cherchi, Simone

Kidney international

2014 Volume 85, Issue 6, Page(s) 1253–1255

Abstract: Understanding the complex genetic makeup underlying congenital anomalies of the kidney and urinary tract (CAKUT) is of primary importance to improve diagnosis, stratify risk for later-onset complications, and develop therapeutic strategies. Saisawat et ... ...

Abstract	Understanding the complex genetic makeup underlying congenital anomalies of the kidney and urinary tract (CAKUT) is of primary importance to improve diagnosis, stratify risk for later-onset complications, and develop therapeutic strategies. Saisawat et al. used homozygosity mapping coupled with next-generation sequencing to identify recessive mutations in TRAP1 in families with isolated CAKUT and with VACTERL association. This study points to a novel player in kidney development, possibly affecting apoptosis and endoplasmic reticulum stress signaling.
MeSH term(s)	Anal Canal/abnormalities ; Animals ; DNA Mutational Analysis ; Esophagus/abnormalities ; Exosomes ; Female ; Genetic Testing ; HSP90 Heat-Shock Proteins ; Heart Defects, Congenital/genetics ; Humans ; Kidney/abnormalities ; Limb Deformities, Congenital/genetics ; Male ; Mutation ; Spine/abnormalities ; Trachea/abnormalities ; Urogenital Abnormalities ; Vesico-Ureteral Reflux/genetics
Chemical Substances	HSP90 Heat-Shock Proteins ; TRAP1 protein, human
Language	English
Publishing date	2014-06
Publishing country	United States
Document type	Comment ; Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	120573-0
ISSN	1523-1755 ; 0085-2538
ISSN (online)	1523-1755
ISSN	0085-2538
DOI	10.1038/ki.2013.495
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 797: Show issues

Location:
Je nach Verfügbarkeit (siehe Angabe bei Bestand)
bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
Jg. 1995 - 2021: Lesesall (1.OG)
ab Jg. 2022: Lesesaal (EG)

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

To top

Full text online

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

Order via subito

Inter-library loan at ZB MED

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

Full text online

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

Order via subito

Full text online

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito

More links

Kategorien

In stock of ZB MED Cologne/Königswinter

Order via subito