LIVIVO - Search results -

Search results

Result 1 - 10 of total 14

Search options

Article ; Online: Chronic mucocutaneous candidiasis with severe oral injury associated with a STAT 1 gain-of-function mutation

Chaimae Mahad / Bouchra Baghad / Ahmed Aziz Bousfiha / Anne Puel / Ihsane Benyahya

Advances in Oral and Maxillofacial Surgery, Vol 6, Iss , Pp 100272- (2022)

2022

Abstract: Introduction: Chronic mucocutaneous candidiasis (CMC) is characterized by the occurrence of chronic or recurrent infections caused by yeasts of the genus Candida. Infections can affect the skin and mucous membranes, mainly the oral mucosa. We report the ... ...

Abstract	Introduction: Chronic mucocutaneous candidiasis (CMC) is characterized by the occurrence of chronic or recurrent infections caused by yeasts of the genus Candida. Infections can affect the skin and mucous membranes, mainly the oral mucosa. We report the case of a patient with CMC with recurrent oral damage associated with a heterozygous gain-of-function mutation in the STAT1 gene. Observation: A young Morrocan 30-year-old was referred to oral surgery department following the occurrence of recurrent oral ulcers leading to difficulty in tooth brushing and dysphagia. The patient had been followed since the age of 2 for mycobacterial and viral infections. Exome sequencing identified a heterozygous gain-of-function mutation in the STAT1 gene confirming the diagnosis of CMC with oral involvement. Comments: CMC usually starts in early childhood and can lead to fungal, bacterial and viral infections, as well as carcinomas. Mucosal-cutaneous fungal infections mainly affect the oral mucosa. Mutations in the gene encoding the signal transducer and activator of transcription protein-1 (STAT1) are the most commonly reported cause of CMC. The treatment is multidisciplinary. The goal is to treat Candida infection and its repercussions especially on the oral cavity.
Keywords	Chronic mucocutaneous candidiasis ; Immunologic deficiency ; STAT 1 gain-of-function ; Glossitis ; Cheilitis ; Internal medicine ; RC31-1245 ; Surgery ; RD1-811
Subject code	610
Language	English
Publishing date	2022-04-01T00:00:00Z
Publisher	Elsevier
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

Full text online

Full text

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: Genetic adaptation to pathogens and increased risk of inflammatory disorders in post-Neolithic Europe

Gaspard Kerner / Anna-Lena Neehus / Quentin Philippot / Jonathan Bohlen / Darawan Rinchai / Nacim Kerrouche / Anne Puel / Shen-Ying Zhang / Stéphanie Boisson-Dupuis / Laurent Abel / Jean-Laurent Casanova / Etienne Patin / Guillaume Laval / Lluis Quintana-Murci

Cell Genomics, Vol 3, Iss 2, Pp 100248- (2023)

2023

Abstract: Summary: Ancient genomics can directly detect human genetic adaptation to environmental cues. However, it remains unclear how pathogens have exerted selective pressures on human genome diversity across different epochs and affected present-day ... ...

Abstract	Summary: Ancient genomics can directly detect human genetic adaptation to environmental cues. However, it remains unclear how pathogens have exerted selective pressures on human genome diversity across different epochs and affected present-day inflammatory disease risk. Here, we use an ancestry-aware approximate Bayesian computation framework to estimate the nature, strength, and time of onset of selection acting on 2,879 ancient and modern European genomes from the last 10,000 years. We found that the bulk of genetic adaptation occurred after the start of the Bronze Age, <4,500 years ago, and was enriched in genes relating to host-pathogen interactions. Furthermore, we detected directional selection acting on specific leukocytic lineages and experimentally demonstrated that the strongest negatively selected candidate variant in immunity genes, lipopolysaccharide-binding protein (LBP) D283G, is hypomorphic. Finally, our analyses suggest that the risk of inflammatory disorders has increased in post-Neolithic Europeans, possibly because of antagonistic pleiotropy following genetic adaptation to pathogens.
Keywords	ancient DNA ; immunity ; host defense ; natural selection ; local adaptation ; inflammatory disorders ; Genetics ; QH426-470 ; Internal medicine ; RC31-1245
Subject code	930
Language	English
Publishing date	2023-02-01T00:00:00Z
Publisher	Elsevier
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

Full text online

Full text

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: Notch, RORC and IL-23 signals cooperate to promote multi-lineage human innate lymphoid cell differentiation

Carys A. Croft / Anna Thaller / Solenne Marie / Jean-Marc Doisne / Laura Surace / Rui Yang / Anne Puel / Jacinta Bustamante / Jean-Laurent Casanova / James P. Di Santo

Nature Communications, Vol 13, Iss 1, Pp 1-

2022 Volume 14

Abstract: Innate lymphoid cells (ILC) are effector cells that rapidly respond to immune evading stimuli, and despite their functional diversity arise from common precursors. Authors here show how the Notch signalling pathway orchestrates ILC development from ... ...

Abstract	Innate lymphoid cells (ILC) are effector cells that rapidly respond to immune evading stimuli, and despite their functional diversity arise from common precursors. Authors here show how the Notch signalling pathway orchestrates ILC development from circulating human ILC precursors via RORC and its target IL-23R.
Keywords	Science ; Q
Language	English
Publishing date	2022-07-01T00:00:00Z
Publisher	Nature Portfolio
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

Full text online

Full text

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: Invasive Rhinosinusitis Caused by Alternaria infectoria in a Patient with Autosomal Recessive CARD9 Deficiency and a Review of the Literature

Olivier Paccoud / Nicolas Vignier / Mohammed Boui / Mélanie Migaud / Pierre Vironneau / Romain Kania / Frédéric Méchaï / Sophie Brun / Alexandre Alanio / Arnault Tauziède-Espariat / Homa Adle-Biassette / Elise Ouedraogo / Jacinta Bustamante / Olivier Bouchaud / Jean-Laurent Casanova / Anne Puel / Fanny Lanternier

Journal of Fungi, Vol 8, Iss 446, p

2022 Volume 446

Abstract: Phaeohyphomycoses comprise a heterogeneous group of fungal infections caused by dematiaceous fungi and have primarily been reported in patients with underlying acquired immunodeficiencies, such as hematological malignancies or solid-organ transplants. ... ...

Abstract	Phaeohyphomycoses comprise a heterogeneous group of fungal infections caused by dematiaceous fungi and have primarily been reported in patients with underlying acquired immunodeficiencies, such as hematological malignancies or solid-organ transplants. Over the past decade, a growing number of patients with phaeohyphomycosis but otherwise healthy were reported with autosomal recessive (AR) CARD9 deficiency. We report a 28-year-old woman who presented with invasive rhinosinusitis caused by Alternaria infectoria . Following a candidate gene sequencing approach, we identified a biallelic loss-of-function mutation of CARD9, thereby further broadening the spectrum of invasive fungal diseases found in patients with inherited CARD9 deficiency. In addition, we reviewed 17 other cases of phaeohyphomycosis associated with AR CARD9 deficiency. Physicians should maintain a high degree of suspicion for inborn errors of immunity, namely CARD9 deficiency, when caring for previously healthy patients with phaeohyphomycosis, regardless of age at first presentation.
Keywords	Alternaria infectoria ; CARD9 deficiency ; phaeohyphomycosis ; invasive fungal sinusitis ; Biology (General) ; QH301-705.5
Subject code	610
Language	English
Publishing date	2022-04-01T00:00:00Z
Publisher	MDPI AG
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

Full text online

Full text

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: Severe Dermatophytosis and Acquired or Innate Immunodeficiency

Claire Rouzaud / Roderick Hay / Olivier Chosidow / Nicolas Dupin / Anne Puel / Olivier Lortholary / Fanny Lanternier

Journal of Fungi, Vol 2, Iss 1, p

A Review

2015 Volume 4

Abstract: Dermatophytes are keratinophilic fungi responsible for benign and common forms of infection worldwide. However, they can lead to rare and severe diseases in immunocompromised patients. Severe forms include extensive and/or invasive dermatophytosis, i.e., ...

Abstract	Dermatophytes are keratinophilic fungi responsible for benign and common forms of infection worldwide. However, they can lead to rare and severe diseases in immunocompromised patients. Severe forms include extensive and/or invasive dermatophytosis, i.e., deep dermatophytosis and Majocchi’s granuloma. They are reported in immunocompromised hosts with primary (autosomal recessive CARD9 deficiency) or acquired (solid organ transplantation, autoimmune diseases requiring immunosuppressive treatments, HIV infection) immunodeficiencies. The clinical manifestations of the infection are not specific. Lymph node and organ involvement may also occur. Diagnosis requires both mycological and histological findings. There is no consensus on treatment. Systemic antifungal agents such as terbinafine and azoles (itraconazole or posaconazole) are effective. However, long-term outcome and treatment management depend on the site and extent of the infection and the nature of the underlying immunodeficiency.
Keywords	dermatophytosis ; Trichophyton rubrum ; immunodepression ; organ transplant ; HIV ; CARD9 deficiency ; Biology (General) ; QH301-705.5
Subject code	610
Language	English
Publishing date	2015-12-01T00:00:00Z
Publisher	MDPI AG
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

Full text online

Full text

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: Inherited ARPC5 mutations cause an actinopathy impairing cell motility and disrupting cytokine signaling

Cristiane J. Nunes-Santos / HyeSun Kuehn / Brigette Boast / SuJin Hwang / Douglas B. Kuhns / Jennifer Stoddard / Julie E. Niemela / Danielle L. Fink / Stefania Pittaluga / Mones Abu-Asab / John S. Davies / Valarie A. Barr / Tomoki Kawai / Ottavia M. Delmonte / Marita Bosticardo / Mary Garofalo / Magda Carneiro-Sampaio / Raz Somech / Mohammad Gharagozlou /

Nima Parvaneh / Lawrence E. Samelson / Thomas A. Fleisher / Anne Puel / Luigi D. Notarangelo / Bertrand Boisson / Jean-Laurent Casanova / Beata Derfalvi / Sergio D. Rosenzweig

Nature Communications, Vol 14, Iss 1, Pp 1-

2023 Volume 12

Abstract: Abstract We describe the first cases of germline biallelic null mutations in ARPC5, part of the Arp2/3 actin nucleator complex, in two unrelated patients presenting with recurrent and severe infections, early-onset autoimmunity, inflammation, and ... ...

Abstract	Abstract We describe the first cases of germline biallelic null mutations in ARPC5, part of the Arp2/3 actin nucleator complex, in two unrelated patients presenting with recurrent and severe infections, early-onset autoimmunity, inflammation, and dysmorphisms. This defect compromises multiple cell lineages and functions, and when protein expression is reestablished in-vitro, the Arp2/3 complex conformation and functions are rescued. As part of the pathophysiological evaluation, we also show that interleukin (IL)−6 signaling is distinctively impacted in this syndrome. Disruption of IL-6 classical but not trans-signaling highlights their differential roles in the disease and offers perspectives for therapeutic molecular targets.
Keywords	Science ; Q
Language	English
Publishing date	2023-06-01T00:00:00Z
Publisher	Nature Portfolio
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

Full text online

Full text

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: Correction

Daniela Matuozzo / Estelle Talouarn / Astrid Marchal / Peng Zhang / Jeremy Manry / Yoann Seeleuthner / Yu Zhang / Alexandre Bolze / Matthieu Chaldebas / Baptiste Milisavljevic / Adrian Gervais / Paul Bastard / Takaki Asano / Lucy Bizien / Federica Barzaghi / Hassan Abolhassani / Ahmad Abou Tayoun / Alessandro Aiuti / Ilad Alavi Darazam /

Luis M. Allende / Rebeca Alonso-Arias / Andrés Augusto Arias / Gokhan Aytekin / Peter Bergman / Simone Bondesan / Yenan T. Bryceson / Ingrid G. Bustos / Oscar Cabrera-Marante / Sheila Carcel / Paola Carrera / Giorgio Casari / Khalil Chaïbi / Roger Colobran / Antonio Condino-Neto / Laura E. Covill / Ottavia M. Delmonte / Loubna El Zein / Carlos Flores / Peter K. Gregersen / Marta Gut / Filomeen Haerynck / Rabih Halwani / Selda Hancerli / Lennart Hammarström / Nevin Hatipoğlu / Adem Karbuz / Sevgi Keles / Christèle Kyheng / Rafael Leon-Lopez / Jose Luis Franco / Davood Mansouri / Javier Martinez-Picado / Ozge Metin Akcan / Isabelle Migeotte / Pierre-Emmanuel Morange / Guillaume Morelle / Andrea Martin-Nalda / Giuseppe Novelli / Antonio Novelli / Tayfun Ozcelik / Figen Palabiyik / Qiang Pan-Hammarström / Rebeca Pérez de Diego / Laura Planas-Serra / Daniel E. Pleguezuelo / Carolina Prando / Aurora Pujol / Luis Felipe Reyes / Jacques G. Rivière / Carlos Rodriguez-Gallego / Julian Rojas / Patrizia Rovere-Querini / Agatha Schlüter / Mohammad Shahrooei / Ali Sobh / Pere Soler-Palacin / Yacine Tandjaoui-Lambiotte / Imran Tipu / Cristina Tresoldi / Jesus Troya / Diederik van de Beek / Mayana Zatz / Pawel Zawadzki / Saleh Zaid Al-Muhsen / Mohammed Faraj Alosaimi / Fahad M. Alsohime / Hagit Baris-Feldman / Manish J. Butte / Stefan N. Constantinescu / Megan A. Cooper / Clifton L. Dalgard / Jacques Fellay / James R. Heath / Yu-Lung Lau / Richard P. Lifton / Tom Maniatis / Trine H. Mogensen / Horst von Bernuth / Alban Lermine / Michel Vidaud / Anne Boland / Jean-François Deleuze / Robert Nussbaum / Amanda Kahn-Kirby / France Mentre / Sarah Tubiana / Guy Gorochov / Florence Tubach / Pierre Hausfater / COVID Human Genetic Effort / COVIDeF Study Group / French COVID Cohort Study Group / CoV-Contact Cohort / COVID Clinicians / Orchestra Working Group / Amsterdam UMC Covid-19 Biobank / NIAID-USUHS COVID Study Group / Isabelle Meyts / Shen-Ying Zhang / Anne Puel / Luigi D. Notarangelo / Stephanie Boisson-Dupuis / Helen C. Su / Bertrand Boisson / Emmanuelle Jouanguy / Jean-Laurent Casanova / Qian Zhang / Laurent Abel / Aurélie Cobat

Genome Medicine, Vol 16, Iss 1, Pp 1-

Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

2024 Volume 3

Keywords	Medicine ; R ; Genetics ; QH426-470
Language	English
Publishing date	2024-01-01T00:00:00Z
Publisher	BMC
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

Full text online

Full text

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: Human Adaptive Immunity Rescues an Inborn Error of Innate Immunity

Israel, Laura / Andrew Moran / Anne Puel / Avinash Abhyankar / Aziz Belkadi / Bruce Beutler / Capucine Picard / Carolina Prando / Damien Chaussabel / Elisabeth Israelsson / Erika Della Mina / François Vandenesch / Frederic Batteux / Jean-Laurent Casanova / Jethro Herberg / Katarzyna Bulek / Laurent Abel / Lazaro Lorenzo / Leonard E. Weisman /

Ling Yun / Marc Descatoire / Maya Chrabieh / Michael Levin / Nicole A. Lemmens / Peter D. Arkwright / Sandra Weller / Théo Lasseau / Vanessa Sancho-Shimizu / Vincent Pedergnana / Willem J.B. van Wamel / Xiaoxia Li / Ying Wang / Yuval Itan / Zhao Zhang

Cell. 2017 Feb. 23, v. 168, no. 5

2017

Abstract: The molecular basis of the incomplete penetrance of monogenic disorders is unclear. We describe here eight related individuals with autosomal recessive TIRAP deficiency. Life-threatening staphylococcal disease occurred during childhood in the proband, ... ...

Abstract	The molecular basis of the incomplete penetrance of monogenic disorders is unclear. We describe here eight related individuals with autosomal recessive TIRAP deficiency. Life-threatening staphylococcal disease occurred during childhood in the proband, but not in the other seven homozygotes. Responses to all Toll-like receptor 1/2 (TLR1/2), TLR2/6, and TLR4 agonists were impaired in the fibroblasts and leukocytes of all TIRAP-deficient individuals. However, the whole-blood response to the TLR2/6 agonist staphylococcal lipoteichoic acid (LTA) was abolished only in the index case individual, the only family member lacking LTA-specific antibodies (Abs). This defective response was reversed in the patient, but not in interleukin-1 receptor-associated kinase 4 (IRAK-4)-deficient individuals, by anti-LTA monoclonal antibody (mAb). Anti-LTA mAb also rescued the macrophage response in mice lacking TIRAP, but not TLR2 or MyD88. Thus, acquired anti-LTA Abs rescue TLR2-dependent immunity to staphylococcal LTA in individuals with inherited TIRAP deficiency, accounting for incomplete penetrance. Combined TIRAP and anti-LTA Ab deficiencies underlie staphylococcal disease in this patient.
Keywords	adaptive immunity ; agonists ; childhood ; fibroblasts ; homozygosity ; humans ; innate immunity ; interleukin-1 ; leukocytes ; lipoteichoic acids ; macrophages ; mice ; monoclonal antibodies ; patients ; penetrance ; Toll-like receptor 2 ; Toll-like receptor 4
Language	English
Dates of publication	2017-0223
Size	p. 789-800.e10.
Publishing place	Elsevier Inc.
Document type	Article
ZDB-ID	187009-9
ISSN	1097-4172 ; 0092-8674
ISSN (online)	1097-4172
ISSN	0092-8674
DOI	10.1016/j.cell.2017.01.039
Database	NAL-Catalogue (AGRICOLA)

In stock of ZB MED Bonn / Germany

Z 75/702: Show issues
Z 93: Show issues

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.

Details ▾
- See ZB MED holdings
- Order with fees

Article: Systemic Human ILC Precursors Provide a Substrate for Tissue ILC Differentiation

Lim, Ai Ing / Anne Puel / Armanda Casrouge / Davide Topazio / Eyal David / Franziska Paul / Guillemette Masse-Ranson / Hans Yssel / Helene Strick-Marchand / Ido Amit / Jacinta Bustamante / James P. Di Santo / Jean-Laurent Casanova / Jean-Michel Sallenave / Lars Rogge / Laura Surace / Lionel Le Bourhis / Lucia Anna Muscarella / Matthieu Allez /

Nicolas Serafini / Paolo Graziano / Ralph Stadhouders / Roberto Cocchi / Rudi W. Hendriks / Silvia Lopez-Lastra / Thomas Graf / Xavier Norel / Yan Li

Cell. 2017 Mar. 09, v. 168

2017

Abstract: Innate lymphoid cells (ILCs) represent innate versions of T helper and cytotoxic TÂ cells that differentiate from committed ILC precursors (ILCPs). How ILCPs give rise to mature tissue-resident ILCs remains unclear. Here, we identify circulating and ... ...

Abstract	Innate lymphoid cells (ILCs) represent innate versions of T helper and cytotoxic TÂ cells that differentiate from committed ILC precursors (ILCPs). How ILCPs give rise to mature tissue-resident ILCs remains unclear. Here, we identify circulating and tissue ILCPs in humans that fail to express the transcription factors and cytokine outputs of mature ILCs but have these signature loci in an epigenetically poised configuration. Human ILCPs robustly generate all ILC subsets inÂ vitro and inÂ vivo. While human ILCPs express low levels of retinoic acid receptor (RAR)-related orphan receptor C (RORC) transcripts, these cells are found in RORC-deficient patients and retain potential for EOMES+ natural killer (NK) cells, interferon gamma-positive (IFN-Î³+) ILC1s, interleukin (IL)-13+ ILC2s, and for IL-22+, but not for IL-17A+ ILC3s. Our results support a model of tissue ILC differentiation (âILC-poiesisâ), whereby diverse ILC subsets are generated inÂ situ from systemically distributed ILCPs in response to local environmental signals.
Keywords	CD4-positive T-lymphocytes ; cytotoxicity ; humans ; interferons ; interleukins ; loci ; models ; natural killer cells ; patients ; retinoic acid ; transcription factors
Language	English
Dates of publication	2017-0309
Size	p. 1086-1100.e10.
Publishing place	Elsevier Inc.
Document type	Article
ZDB-ID	187009-9
ISSN	1097-4172 ; 0092-8674
ISSN (online)	1097-4172
ISSN	0092-8674
DOI	10.1016/j.cell.2017.02.021
Database	NAL-Catalogue (AGRICOLA)

In stock of ZB MED Bonn / Germany

Z 75/702: Show issues
Z 93: Show issues

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.

Details ▾
- See ZB MED holdings
- Order with fees

Article ; Online: A mild form of SLC29A3 disorder

Alexandre Bolze / Avinash Abhyankar / Audrey V Grant / Bhavi Patel / Ruchi Yadav / Minji Byun / Daniel Caillez / Jean-Francois Emile / Marçal Pastor-Anglada / Laurent Abel / Anne Puel / Rajgopal Govindarajan / Loic de Pontual / Jean-Laurent Casanova

PLoS ONE, Vol 7, Iss 1, p e

a frameshift deletion leads to the paradoxical translation of an otherwise noncoding mRNA splice variant.

2012 Volume 29708

Abstract: We investigated two siblings with granulomatous histiocytosis prominent in the nasal area, mimicking rhinoscleroma and Rosai-Dorfman syndrome. Genome-wide linkage analysis and whole-exome sequencing identified a homozygous frameshift deletion in SLC29A3, ...

Abstract	We investigated two siblings with granulomatous histiocytosis prominent in the nasal area, mimicking rhinoscleroma and Rosai-Dorfman syndrome. Genome-wide linkage analysis and whole-exome sequencing identified a homozygous frameshift deletion in SLC29A3, which encodes human equilibrative nucleoside transporter-3 (hENT3). Germline mutations in SLC29A3 have been reported in rare patients with a wide range of overlapping clinical features and inherited disorders including H syndrome, pigmented hypertrichosis with insulin-dependent diabetes, and Faisalabad histiocytosis. With the exception of insulin-dependent diabetes and mild finger and toe contractures in one sibling, the two patients with nasal granulomatous histiocytosis studied here displayed none of the many SLC29A3-associated phenotypes. This mild clinical phenotype probably results from a remarkable genetic mechanism. The SLC29A3 frameshift deletion prevents the expression of the normally coding transcripts. It instead leads to the translation, expression, and function of an otherwise noncoding, out-of-frame mRNA splice variant lacking exon 3 that is eliminated by nonsense-mediated mRNA decay (NMD) in healthy individuals. The mutated isoform differs from the wild-type hENT3 by the modification of 20 residues in exon 2 and the removal of another 28 amino acids in exon 3, which include the second transmembrane domain. As a result, this new isoform displays some functional activity. This mechanism probably accounts for the narrow and mild clinical phenotype of the patients. This study highlights the 'rescue' role played by a normally noncoding mRNA splice variant of SLC29A3, uncovering a new mechanism by which frameshift mutations can be hypomorphic.
Keywords	Medicine ; R ; Science ; Q
Subject code	610
Language	English
Publishing date	2012-01-01T00:00:00Z
Publisher	Public Library of Science (PLoS)
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

Full text online

Full text

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.

To top

Full text online

More links

Kategorien

Inter-library loan at ZB MED

Full text online

More links

Kategorien

Inter-library loan at ZB MED

Full text online

More links

Kategorien

Inter-library loan at ZB MED

Full text online

More links

Kategorien

Inter-library loan at ZB MED

Full text online

More links

Kategorien

Inter-library loan at ZB MED

Full text online

More links

Kategorien

Inter-library loan at ZB MED

Full text online

More links

Kategorien

Inter-library loan at ZB MED

More links

Kategorien

In stock of ZB MED Bonn / Germany

Order via subito

Inter-library loan at ZB MED

More links

Kategorien

In stock of ZB MED Bonn / Germany

Order via subito

Inter-library loan at ZB MED

Full text online

More links

Kategorien

Inter-library loan at ZB MED