LIVIVO - Search results -

Search results

Result 1 - 10 of total 214

Search options

Book ; Online: Certifications of Critical Systems - The CECRIS Experience

Bondavalli, Andrea / Brancati, Francesco

2017

Keywords	Automatic control engineering ; Distributed systems
Language	English
Size	1 electronic resource (312 pages)
Publisher	Taylor and Francis
Document type	Book ; Online
Note	English
HBZ-ID	HT030382520
ISBN	9788793519565 ; 8793519567
Database	ZB MED Catalogue: Medicine, Health, Nutrition, Environment, Agriculture

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.

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: Patient perspective in perceived comparative genetic mutation risk: An exploratory review.

Cilli, Eleonora / Guerra, Federica / Ranieri, Jessica / Brancati, Francesco / Di Giacomo, Dina

Clinical genetics

2024 Volume 105, Issue 4, Page(s) 355–363

Abstract: The genetic risk of chronic diseases represents a complex medical setting in which individuals need to adapt to health conditions that manage daily living towards to healthy behaviours. This exploratory review focused on psychological counselling for ... ...

Abstract	The genetic risk of chronic diseases represents a complex medical setting in which individuals need to adapt to health conditions that manage daily living towards to healthy behaviours. This exploratory review focused on psychological counselling for genetic risk diagnosis. This study aimed to address the psychological management of the impact of genetic risk on chronic diseases. We performed a systematic search of MEDLINE via PubMed, Embase, Web of Science, PsycINFO and Scopus for articles from May 2012 to August 2023. A descriptive analysis of the characteristics of the included studies was conducted. Based on the exclusion/inclusion criteria, the literature search yielded 250 studies. Seventeen full texts were assessed for eligibility and 207 articles were excluded. Observational (n = 15) and randomised clinical trials (n = 2) were examined. Most studies have been conducted on oncological diagnoses; the emotional dimensions examined have been worry, depression, anxiety and stress in most diseases. Psychological measures are based on self-reports and questionnaires; few studies have investigated the connections between quality of life, psychological traits and emotional dimensions. The complexity of clinics and from daily diagnostic and treatment practices to the everyday experience of those living with the risk of disease might be addressed in counselling settings to improve quality of life in genetic risk, increasing mental adaptation to tailored chronic conditions. Thus, the empowerment of communication of genetic risk information should be part of the general trend towards personalised medicine.
MeSH term(s)	Humans ; Quality of Life ; Psychotherapy/methods ; Anxiety/therapy ; Chronic Disease ; Counseling
Language	English
Publishing date	2024-02-10
Publishing country	Denmark
Document type	Journal Article ; Review
ZDB-ID	221209-2
ISSN	1399-0004 ; 0009-9163
ISSN (online)	1399-0004
ISSN	0009-9163
DOI	10.1111/cge.14489
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 413: 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: History of Childhood/Adolescence Referral to Speciality Care or Treatment in Adult Patients with Attention-Deficit/Hyperactivity Disorder: Mutual Relations with Clinical Presentation, Psychiatric Comorbidity and Emotional Dysregulation.

Brancati, Giulio Emilio / De Rosa, Ugo / De Dominicis, Francesco / Petrucci, Alessandra / Nannini, Alessandro / Medda, Pierpaolo / Schiavi, Elisa / Perugi, Giulio

Brain sciences

2023 Volume 13, Issue 9

Abstract: Attention-deficit/hyperactivity disorder (ADHD) is a neurodevelopmental condition that only rarely remits in adulthood. While several studies underlined differences between child and adult ADHD, the relationship between adult clinical presentation and ... ...

Abstract	Attention-deficit/hyperactivity disorder (ADHD) is a neurodevelopmental condition that only rarely remits in adulthood. While several studies underlined differences between child and adult ADHD, the relationship between adult clinical presentation and early referral/treatment has been rarely investigated. In our study, 100 adults with ADHD were recruited and subdivided according to a history of referral to speciality care or treatment with methylphenidate (MPH) during childhood/adolescence. The early referral was associated with a history of disruptive behaviors during childhood/adolescence. Current ADHD symptoms were more pronounced in patients first referred during childhood/adolescence but never treated with MPH. Early MPH treatment was associated with lower rates of mood disorders and lower severity of emotional dysregulation at the time of assessment. Negative emotionality mediated the relationship between MPH treatment and mood disorders comorbidity. ADHD patients first referred during childhood/adolescence are characterized by more externalizing features than those first referred in adulthood. MPH treatment during the developmental age may have a role in preventing mood disorders in patients with ADHD, possibly by reducing emotional dysregulation.
Language	English
Publishing date	2023-08-27
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2651993-8
ISSN	2076-3425
ISSN	2076-3425
DOI	10.3390/brainsci13091251
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

Article ; Online: Genetics of familial adult myoclonus epilepsy: From linkage studies to noncoding repeat expansions.

Corbett, Mark A / Depienne, Christel / Veneziano, Liana / Klein, Karl Martin / Brancati, Francesco / Guerrini, Renzo / Zara, Federico / Tsuji, Shoji / Gecz, Jozef

Epilepsia

2023 Volume 64 Suppl 1, Page(s) S14–S21

Abstract: Familial adult myoclonus epilepsy (FAME) is a genetic epilepsy syndrome that for many years has resisted understanding of its underlying molecular cause. This review covers the history of FAME genetic studies worldwide, starting with linkage and ... ...

Abstract	Familial adult myoclonus epilepsy (FAME) is a genetic epilepsy syndrome that for many years has resisted understanding of its underlying molecular cause. This review covers the history of FAME genetic studies worldwide, starting with linkage and culminating in the discovery of noncoding TTTTA and inserted TTTCA pentanucleotide repeat expansions within six different genes to date (SAMD12, STARD7, MARCHF6, YEATS2, TNRC6A, and RAPGEF2). FAME occurs worldwide; however, repeat expansions in particular genes have regional geographical distributions. FAME repeat expansions are dynamic in nature, changing in length and structure within germline and somatic tissues. This variation poses challenges for molecular diagnosis such that molecular methods used to identify FAME repeat expansions typically require a trade-off between cost and efficiency. A rigorous evaluation of the sensitivity and specificity of each molecular approach remains to be performed. The origin of FAME repeat expansions and the genetic and environmental factors that modulate repeat variability are not well defined. Longer repeats and particular arrangements of the TTTTA and TTTCA motifs within an expansion are correlated with earlier onset and increased severity of disease. Other factors such as maternal or paternal inheritance, parental age, and repeat length alone have been suggested to influence repeat variation; however, further research is required to confirm this. The history of FAME genetics to the present is a chronicle of perseverance and predominantly collaborative efforts that yielded a successful outcome. The discovery of FAME repeats will spark progress toward a deeper understanding of the molecular pathogenesis of FAME, discovery of new loci, and development of cell and animal models.
MeSH term(s)	Humans ; Epilepsies, Myoclonic/genetics ; Epilepsies, Myoclonic/pathology ; Pedigree ; Research
Language	English
Publishing date	2023-04-17
Publishing country	United States
Document type	Review ; Journal Article
ZDB-ID	216382-2
ISSN	1528-1167 ; 0013-9580
ISSN (online)	1528-1167
ISSN	0013-9580
DOI	10.1111/epi.17610
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 517: 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 475: Show issues

Order via subito

Details ▾
- See ZB MED holdings
- Order with fees

Article ; Online: Development of a self-report screening instrument for emotional dysregulation: the Reactivity, Intensity, Polarity and Stability questionnaire, screening version (RIPoSt-SV).

Brancati, Giulio Emilio / De Rosa, Ugo / Acierno, Donatella / Caruso, Valerio / De Dominicis, Francesco / Petrucci, Alessandra / Moriconi, Martina / Elefante, Camilla / Gemignani, Samuele / Medda, Pierpaolo / Schiavi, Elisa / Perugi, Giulio

Journal of affective disorders

2024 Volume 355, Page(s) 406–414

Abstract: Background: Emotional dysregulation (ED) refers to the inability to manage emotional experiences or expressions hindering goal-oriented behavior. Moderate impairment on at least two domains among temper control, affective lability, and emotional over- ... ...

Abstract	Background: Emotional dysregulation (ED) refers to the inability to manage emotional experiences or expressions hindering goal-oriented behavior. Moderate impairment on at least two domains among temper control, affective lability, and emotional over-reactivity has been proposed to identify ED in adults with attention-deficit/hyperactivity disorder (ADHD). No screening measure designed for use in diverse psychiatric samples exists. We aimed to develop a self-report screening tool for ED based on the 40-item version of the Reactivity, Intensity, Polarity, and Stability questionnaire (RIPoSt-40). Methods: 150 adult outpatients with non-psychotic conditions were enrolled between February and July 2023 at the Second Psychiatry Unit of Pisa University Hospital. Clinically significant ED (CSED) was defined based on the previously suggested approach for ADHD. Differences between patients with and without CSED were tested. To develop our screening instrument, a decision tree algorithm was trained by hyperparameter tuning through 5-fold cross-validation in 120 subjects and tested on the remaining 30. Results: 75 subjects met criteria for CSED (50 %). CSED was associated with lower age and higher prevalence of psychiatric conditions, including minor mood disorders, ADHD, cannabis use disorders, and eating disorders. We identified a decision tree consisting of six items from RIPoSt-40 that effectively detected CSED, with accuracy, sensitivity, specificity, positive and negative predictive values of 80 % or higher in both the training and testing sets. Limitations: Tertiary-level; no consensus on criteria; sample size. Conclusion: The screening version of the Reactivity, Intensity, Polarity, and Stability questionnaire (RIPoSt-SV) demonstrates promise as a valuable tool for ED screening in clinical settings.
MeSH term(s)	Adult ; Humans ; Self Report ; Affective Symptoms/psychology ; Emotions ; Attention Deficit Disorder with Hyperactivity/psychology ; Surveys and Questionnaires
Language	English
Publishing date	2024-04-02
Publishing country	Netherlands
Document type	Journal Article
ZDB-ID	135449-8
ISSN	1573-2517 ; 0165-0327
ISSN (online)	1573-2517
ISSN	0165-0327
DOI	10.1016/j.jad.2024.03.167
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 1485: 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: RIPK4 regulates cell-cell adhesion in epidermal development and homeostasis.

Fortugno, Paola / Monetta, Rosanna / Belli, Manuel / Botti, Elisabetta / Angelucci, Francesco / Palmerini, Maria Grazia / Nottola, Stefania Annarita / De Luca, Chiara / Ceccarini, Marina / Salvatore, Marco / Bianchi, Luca / Macioce, Pompeo / Teson, Massimo / Ricci, Francesco / Macchiarelli, Guido / Didona, Biagio / Costanzo, Antonio / Castiglia, Daniele / Brancati, Francesco

Human molecular genetics

2022 Volume 31, Issue 15, Page(s) 2535–2547

Abstract: Epidermal development and maintenance are finely regulated events requiring a strict balance between proliferation and differentiation. Alterations in these processes give rise to human disorders such as cancer or syndromes with skin and annexes defects, ...

Abstract	Epidermal development and maintenance are finely regulated events requiring a strict balance between proliferation and differentiation. Alterations in these processes give rise to human disorders such as cancer or syndromes with skin and annexes defects, known as ectodermal dysplasias (EDs). Here, we studied the functional effects of two novel receptor-interacting protein kinase 4 (RIPK4) missense mutations identified in siblings with an autosomal recessive ED with cutaneous syndactyly, palmoplantar hyperkeratosis and orofacial synechiae. Clinical overlap with distinct EDs caused by mutations in transcription factors (i.e. p63 and interferon regulatory factor 6, IRF6) or nectin adhesion molecules was noticed. Impaired activity of the RIPK4 kinase resulted both in altered epithelial differentiation and defective cell adhesion. We showed that mutant RIPK4 resulted in loss of PVRL4/nectin-4 expression in patient epidermis and primary keratinocytes, and demonstrated that PVRL4 is transcriptionally regulated by IRF6, a RIPK4 phosphorylation target. In addition, defective RIPK4 altered desmosome morphology through modulation of plakophilin-1 and desmoplakin. In conclusion, this work implicates RIPK4 kinase function in the p63-IRF6 regulatory loop that controls the proliferation/differentiation switch and cell adhesion, with implications in ectodermal development and cancer.
MeSH term(s)	Cell Adhesion/genetics ; Cell Adhesion Molecules/metabolism ; Ectodermal Dysplasia/metabolism ; Homeostasis ; Humans ; Interferon Regulatory Factors/genetics ; Interferon Regulatory Factors/metabolism ; Keratinocytes/metabolism ; Nectins ; Protein Serine-Threonine Kinases
Chemical Substances	Cell Adhesion Molecules ; IRF6 protein, human ; Interferon Regulatory Factors ; Nectins ; Protein Serine-Threonine Kinases (EC 2.7.11.1)
Language	English
Publishing date	2022-06-01
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1108742-0
ISSN	1460-2083 ; 0964-6906
ISSN (online)	1460-2083
ISSN	0964-6906
DOI	10.1093/hmg/ddac046
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 3469: 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: Long-term treatment of adult ADHD in a naturalistic setting: Clinical predictors of attrition, medication choice, improvement, and response.

Brancati, Giulio Emilio / De Dominicis, Francesco / Petrucci, Alessandra / Pallucchini, Alessandro / Carli, Marco / Medda, Pierpaolo / Schiavi, Elisa / De Rossi, Pietro / Vicari, Stefano / Perugi, Giulio

The world journal of biological psychiatry : the official journal of the World Federation of Societies of Biological Psychiatry

2023 Volume 24, Issue 6, Page(s) 523–538

Abstract: Objectives: The aim of this study was to identify clinical predictors of treatment attrition, medication choice, improvement and response to pharmacotherapy in adult attention-deficit/hyperactivity disorder (ADHD).: Methods: 150 ADHD patients were ... ...

Abstract	Objectives: The aim of this study was to identify clinical predictors of treatment attrition, medication choice, improvement and response to pharmacotherapy in adult attention-deficit/hyperactivity disorder (ADHD). Methods: 150 ADHD patients were enrolled and naturalistically followed-up for at least 4 months. Conners' Adult ADHD Rating Scales-Observer: Screening Version (CAARS-O:SV) were used to measure ADHD severity. Results: 58 subjects (38.7%) were lost at follow-up, while 75 (50%) completed follow-up assessment, on average after 26.05 ± 11.99 weeks; 35 were treated with atomoxetine (ATX) and 40 with methylphenidate (MPH). Treatments were moderately effective ( Conclusions: Consensus-based hierarchical treatment of ADHD comorbidity is not consistently supported. Comorbid anxiety, mood and substance use disorders should not discourage the treatment of adult ADHD.
MeSH term(s)	Humans ; Adult ; Attention Deficit Disorder with Hyperactivity/drug therapy ; Attention Deficit Disorder with Hyperactivity/diagnosis ; Treatment Outcome ; Methylphenidate ; Atomoxetine Hydrochloride/therapeutic use ; Anxiety Disorders/drug therapy ; Central Nervous System Stimulants
Chemical Substances	Methylphenidate (207ZZ9QZ49) ; Atomoxetine Hydrochloride (57WVB6I2W0) ; Central Nervous System Stimulants
Language	English
Publishing date	2023-04-28
Publishing country	England
Document type	Journal Article
ZDB-ID	2051402-5
ISSN	1814-1412 ; 1562-2975
ISSN (online)	1814-1412
ISSN	1562-2975
DOI	10.1080/15622975.2023.2168750
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 5956: 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: Type 2 diabetes mellitus is associated with manic morbidity in elderly patients with mood disorders.

Weiss, Francesco / Brancati, Giulio Emilio / Elefante, Camilla / Petrucci, Alessandra / Gemmellaro, Teresa / Lattanzi, Lorenzo / Perugi, Giulio

International clinical psychopharmacology

2023

Abstract: The association between mood disorders, especially bipolar disorder (BD), and metabolic disorders, is long known. However, to which extent metabolic disorders affect the course of mood disorders in late life is still open to inquiring. To assess the ... ...

Abstract	The association between mood disorders, especially bipolar disorder (BD), and metabolic disorders, is long known. However, to which extent metabolic disorders affect the course of mood disorders in late life is still open to inquiring. To assess the impact of type 2 diabetes mellitus (T2DM) on late-life mood disorders a retrospective chart review was performed. Elderly depressive patients (≥ 65 years) diagnosed with Major Depressive Disorder (N = 57) or BD (N = 43) and followed up for at least 18 months were included and subdivided according to the presence of T2DM comorbidity. Vascular encephalopathy (39.1% vs. 15.6%, P = 0.021) and neurocognitive disorders (21.7% vs. 5.2%, P = 0.028), were more frequently reported in patients with T2DM than in those without. Patients with T2DM showed a greater percentage of follow-up time in manic episodes (r = -0.23, P = 0.020) and a higher rate of manic episode(s) during follow-up (21.7% vs. 5.2%, P = 0.028) than those without. When restricting longitudinal analyses to patients with bipolar spectrum disorders, results were confirmed. In line with the well-known connection between BD and metabolic disorders, our data support an association between T2DM and unfavorable course of illness in the elderly with BD.
Language	English
Publishing date	2023-10-21
Publishing country	England
Document type	Journal Article
ZDB-ID	632837-4
ISSN	1473-5857 ; 0268-1315
ISSN (online)	1473-5857
ISSN	0268-1315
DOI	10.1097/YIC.0000000000000515
Database	MEDical Literature Analysis and Retrieval System OnLINE

In stock of ZB MED Cologne/Königswinter

Zs.A 2162: 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: Pseudodementia in Patients with Unipolar and Bipolar Disorders: A Case Series and Literature Review.

Elefante, Camilla / Brancati, Giulio Emilio / Acierno, Donatella / Pistolesi, Gabriele / Ricciardulli, Sara / Weiss, Francesco / Romeo, Francesca / Lattanzi, Lorenzo / Maremmani, Icro / Perugi, Giulio

Journal of clinical medicine

2024 Volume 13, Issue 6

Abstract: Even though pseudodementia has been historically linked to depression, other psychiatric conditions may cause reversible cognitive alterations. The purpose of this study is to improve our understanding of pseudodementia occurring throughout the entire ... ...

Abstract	Even though pseudodementia has been historically linked to depression, other psychiatric conditions may cause reversible cognitive alterations. The purpose of this study is to improve our understanding of pseudodementia occurring throughout the entire bipolar spectrum. A systematic review was conducted according to PRISMA guidelines. PubMed, Scopus, and Web of Science databases were searched up to March 2023. Fifteen articles on patients with pseudodementia and bipolar disorder (BD), mania, hypomania, or mixed depression have been included. Moreover, seven female patients with mood disorders diagnosed with pseudodementia have been described. According to our research, pseudodementia in patients with BD mostly occurs during a depressive episode. However, pseudodementia has also been observed in the context of manic and mixed states. Psychomotor and psychotic symptoms were commonly associated. The most typical cognitive impairments were disorientation, inattention, and short-term memory deficits. Alterations in neuroimaging were frequently observed. Electroconvulsive therapy and lithium, either alone or in combination with antipsychotics, resulted in the most widely used therapies. Cognitive decline may occur in a substantial proportion of patients. Since pseudodementia can manifest along the entire mood spectrum, it should be taken into consideration as a possible diagnosis in BD patients showing cognitive deficits during manic, mixed, and depressive states.
Language	English
Publishing date	2024-03-19
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2662592-1
ISSN	2077-0383
ISSN	2077-0383
DOI	10.3390/jcm13061763
Database	MEDical Literature Analysis and Retrieval System OnLINE

Order via subito

Article ; Online: Truncating variants in the penultimate exon of TGFBR1 escaping nonsense-mediated mRNA decay cause Loeys-Dietz syndrome.

Fortugno, Paola / Monetta, Rosanna / Cinquina, Valeria / Rigon, Chiara / Boaretto, Francesca / De Luca, Chiara / Zoppi, Nicoletta / Di Leandro, Luana / De Domenico, Emanuela / Di Daniele, Arianna / Ippoliti, Rodolfo / Angelucci, Francesco / Di Cesare, Ernesto / De Paulis, Ruggero / Salviati, Leonardo / Colombi, Marina / Brancati, Francesco / Ritelli, Marco

European journal of human genetics : EJHG

2023 Volume 31, Issue 5, Page(s) 596–601

Abstract: Pathogenic variants in TGFBR1 are a common cause of Loeys-Dietz syndrome (LDS) characterized by life-threatening aortic and arterial disease. Generally, these are missense changes in highly conserved amino acids in the serine-threonine kinase domain. ... ...

Abstract	Pathogenic variants in TGFBR1 are a common cause of Loeys-Dietz syndrome (LDS) characterized by life-threatening aortic and arterial disease. Generally, these are missense changes in highly conserved amino acids in the serine-threonine kinase domain. Conversely, nonsense, frameshift, or specific missense changes in the ligand-binding extracellular domain cause multiple self-healing squamous epithelioma (MSSE) lacking the cardiovascular phenotype. Here, we report on two novel variants in the penultimate exon 8 of TGFBR1 were identified in 3 patients from two unrelated LDS families: both were predicted to cause frameshift and premature stop codons (Gln448Profs15 and Cys446Asnfs4) resulting in truncated TGFBR1 proteins lacking the last 43 and 56 amino acid residues, respectively. These were classified as variants of uncertain significance based on current criteria. Transcript expression analyses revealed both mutant alleles escaped nonsense-mediated mRNA decay. Functional characterization in patient's dermal fibroblasts showed paradoxically enhanced TGFβ signaling, as observed for pathogenic missense TGFBR1 changes causative of LDS. In summary, we expanded the allelic repertoire of LDS-associated TGFBR1 variants to include truncating variants escaping nonsense-mediated mRNA decay. Our data highlight the importance of functional studies in variants interpretation for correct clinical diagnosis.
MeSH term(s)	Humans ; Exons ; Loeys-Dietz Syndrome/genetics ; Loeys-Dietz Syndrome/pathology ; Nonsense Mediated mRNA Decay ; Protein Serine-Threonine Kinases/genetics ; Protein Serine-Threonine Kinases/metabolism ; Receptor, Transforming Growth Factor-beta Type I/genetics ; Receptor, Transforming Growth Factor-beta Type I/metabolism
Chemical Substances	Protein Serine-Threonine Kinases (EC 2.7.11.1) ; Receptor, Transforming Growth Factor-beta Type I (EC 2.7.11.30) ; TGFBR1 protein, human (EC 2.7.11.30)
Language	English
Publishing date	2023-01-04
Publishing country	England
Document type	Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1141470-4
ISSN	1476-5438 ; 1018-4813
ISSN (online)	1476-5438
ISSN	1018-4813
DOI	10.1038/s41431-022-01279-4
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

Details ▾

To top

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

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

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