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  1. Article ; Online: Tricho-Hepato-Enteric Syndrome mutation update: Mutations spectrum of TTC37 and SKIV2L, clinical analysis and future prospects.

    Bourgeois, Patrice / Esteve, Clothilde / Chaix, Charlène / Béroud, Christophe / Lévy, Nicolas / Fabre, Alexandre / Badens, Catherine

    Human mutation

    2018  Volume 39, Issue 6, Page(s) 774–789

    Abstract: Tricho-Hepato-Enteric syndrome (THES) is a very rare autosomal recessive syndromic enteropathy caused by mutations of either TTC37 or SKIV2L genes. Very little is known of these two gene products in mammals nor of the pathophysiology of the disease. ... ...

    Abstract Tricho-Hepato-Enteric syndrome (THES) is a very rare autosomal recessive syndromic enteropathy caused by mutations of either TTC37 or SKIV2L genes. Very little is known of these two gene products in mammals nor of the pathophysiology of the disease. Since the identification of the genes, we have set up the molecular diagnostic of THES in routine, gathering a large cohort with clinical and molecular data. Here, we report the phenotype and genotype analysis of this cohort together with an extensive literature review of THES cases worldwide, that is, 96 individuals harboring mutations in one gene or the other. We set up locus-specific databases for both genes and reviewed the type of mutation as well as their localization in the proteins. No hot spot is evidenced for any type of mutation. The phenotypic analysis was first made on the whole cohort but is limited due to heterogeneity in clinical descriptions. We then examined the lab diagnostic cohort in detail for clinical manifestations. For the first time, we are able to suggest that patients lacking SKIV2L seem more severely affected than those lacking TTC37, in terms of liver damage and prenatal growth impairment.
    MeSH term(s) Carrier Proteins/genetics ; Codon, Nonsense ; DNA Helicases/genetics ; Diarrhea, Infantile/genetics ; Diarrhea, Infantile/pathology ; Facies ; Female ; Fetal Growth Retardation/genetics ; Fetal Growth Retardation/pathology ; Hair Diseases/genetics ; Hair Diseases/pathology ; Humans ; Male ; Mutation ; Phenotype
    Chemical Substances Carrier Proteins ; Codon, Nonsense ; TTC37 protein, human ; DNA Helicases (EC 3.6.4.-) ; SKIV2L protein, human (EC 5.99.-)
    Language English
    Publishing date 2018-03-25
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 1126646-6
    ISSN 1098-1004 ; 1059-7794
    ISSN (online) 1098-1004
    ISSN 1059-7794
    DOI 10.1002/humu.23418
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 3586: Show issues Location:
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  2. Article ; Online: Imbalance of NRG1-ERBB2/3 signalling underlies altered myelination in Charcot-Marie-Tooth disease 4H.

    El-Bazzal, Lara / Ghata, Adeline / Estève, Clothilde / Gadacha, Jihane / Quintana, Patrice / Castro, Christel / Roeckel-Trévisiol, Nathalie / Lembo, Frédérique / Lenfant, Nicolas / Mégarbané, André / Borg, Jean-Paul / Lévy, Nicolas / Bartoli, Marc / Poitelon, Yannick / Roubertoux, Pierre L / Delague, Valérie / Bernard-Marissal, Nathalie

    Brain : a journal of neurology

    2022  Volume 146, Issue 5, Page(s) 1844–1858

    Abstract: Charcot-Marie-Tooth (CMT) disease is one of the most common inherited neurological disorders, affecting either axons from the motor and/or sensory neurons or Schwann cells of the peripheral nervous system (PNS) and caused by more than 100 genes. We ... ...

    Abstract Charcot-Marie-Tooth (CMT) disease is one of the most common inherited neurological disorders, affecting either axons from the motor and/or sensory neurons or Schwann cells of the peripheral nervous system (PNS) and caused by more than 100 genes. We previously identified mutations in FGD4 as responsible for CMT4H, an autosomal recessive demyelinating form of CMT disease. FGD4 encodes FRABIN, a GDP/GTP nucleotide exchange factor, particularly for the small GTPase Cdc42. Remarkably, nerves from patients with CMT4H display excessive redundant myelin figures called outfoldings that arise from focal hypermyelination, suggesting that FRABIN could play a role in the control of PNS myelination. To gain insights into the role of FGD4/FRABIN in Schwann cell myelination, we generated a knockout mouse model (Fgd4SC-/-), with conditional ablation of Fgd4 in Schwann cells. We show that the specific deletion of FRABIN in Schwann cells leads to aberrant myelination in vitro, in dorsal root ganglia neuron/Schwann cell co-cultures, as well as in vivo, in distal sciatic nerves from Fgd4SC-/- mice. We observed that those myelination defects are related to an upregulation of some interactors of the NRG1 type III/ERBB2/3 signalling pathway, which is known to ensure a proper level of myelination in the PNS. Based on a yeast two-hybrid screen, we identified SNX3 as a new partner of FRABIN, which is involved in the regulation of endocytic trafficking. Interestingly, we showed that the loss of FRABIN impairs endocytic trafficking, which may contribute to the defective NRG1 type III/ERBB2/3 signalling and myelination. Using RNA-Seq, in vitro, we identified new potential effectors of the deregulated pathways, such as ERBIN, RAB11FIP2 and MAF, thereby providing cues to understand how FRABIN contributes to proper ERBB2 trafficking or even myelin membrane addition through cholesterol synthesis. Finally, we showed that the re-establishment of proper levels of the NRG1 type III/ERBB2/3 pathway using niacin treatment reduces myelin outfoldings in nerves of CMT4H mice. Overall, our work reveals a new role of FRABIN in the regulation of NRG1 type III/ERBB2/3 NRG1signalling and myelination and opens future therapeutic strategies based on the modulation of the NRG1 type III/ERBB2/3 pathway to reduce CMT4H pathology and more generally other demyelinating types of CMT disease.
    MeSH term(s) Animals ; Mice ; Charcot-Marie-Tooth Disease/genetics ; Guanine Nucleotide Exchange Factors/genetics ; Mice, Knockout ; Mutation ; Neuregulin-1/metabolism ; Schwann Cells ; Sciatic Nerve/pathology ; Sorting Nexins/genetics ; Sorting Nexins/metabolism
    Chemical Substances Guanine Nucleotide Exchange Factors ; Neuregulin-1 ; Nrg1 protein, mouse ; Snx3 protein, mouse ; Sorting Nexins ; Erbb2 protein, mouse (EC 2.7.10.1) ; ErbB3 protein, mouse (EC 2.7.10.1)
    Language English
    Publishing date 2022-10-27
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 80072-7
    ISSN 1460-2156 ; 0006-8950
    ISSN (online) 1460-2156
    ISSN 0006-8950
    DOI 10.1093/brain/awac402
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: A new mutation in the C-terminal end of TTC37 leading to a mild form of syndromic diarrhea/tricho-hepato-enteric syndrome in seven patients from two families.

    Fabre, Alexandre / Petit, Laetitia-Marie / Hansen, Lars F / Wewer, Anne V / Esteve, Clothilde / Chaix, Charlène / Bourgeois, Patrice / Badens, Catherine / Paerregaard, Anders

    American journal of medical genetics. Part A

    2018  Volume 176, Issue 3, Page(s) 727–732

    Abstract: Syndromic diarrhea/tricho-hepato-enteric syndrome (SD/THE) is a rare congenital enteropathy with seven main clinical features: intractable diarrhea of infancy, hair abnormalities, intrauterine growth restriction (IUGR), facial dysmorphism, immune ... ...

    Abstract Syndromic diarrhea/tricho-hepato-enteric syndrome (SD/THE) is a rare congenital enteropathy with seven main clinical features: intractable diarrhea of infancy, hair abnormalities, intrauterine growth restriction (IUGR), facial dysmorphism, immune dysfunction, and liver and skin abnormalities. SD/THE is caused by mutations in TTC37 or SKIV2L, two genes encoding components of the human SKI complex. To date, approximately 50 SD/THE patients have been described with a wide spectrum of mutations, and only one recurrent mutation has been identified in independent families. We present a detailed description of seven patients of Turkish origin with the same new mutation in TTC37: c.4572 G>A p.(Trp1524X). All seven patients were homozygous for this mutation and presented the typical clinical features of SD/THE, but with a milder presentation than usual. All seven patients were alive at the last follow-up. Four out of seven patients had no IUGR, and four patients never required parenteral nutrition. All patients presented a better growth rate than previously described in patients with SD/THE, with 4/7 above the 3rd percentile. The mutation is localized only forty amino acids from the end of TTC37, and as TTC37 is longer than the yeast SKI3, it is possible that a truncated protein is expressed and plays a reduced role in the SKI complex.
    MeSH term(s) Alleles ; Carrier Proteins/genetics ; Child, Preschool ; Diarrhea/congenital ; Diarrhea/diagnosis ; Family ; Female ; Genotype ; Humans ; Infant ; Male ; Mutation ; Pedigree ; Phenotype ; Siblings ; Syndrome
    Chemical Substances Carrier Proteins ; TTC37 protein, human
    Language English
    Publishing date 2018-01-31
    Publishing country United States
    Document type Case Reports ; Journal Article
    ZDB-ID 1493479-6
    ISSN 1552-4833 ; 1552-4825
    ISSN (online) 1552-4833
    ISSN 1552-4825
    DOI 10.1002/ajmg.a.38618
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Novel partial loss-of-function variants in the tyrosyl-tRNA synthetase 1 (YARS1) gene involved in multisystem disease.

    Estève, Clothilde / Roman, Céline / DeLeusse, Cécile / Baravalle, Melissa / Bertaux, Karine / Blanc, Frédéric / Bourgeois, Patrice / Bresson, Violaine / Cano, Aline / Coste, Marie-Edith / Delteil, Clémence / Lacoste, Caroline / Loosveld, Marie / De Paula, André Maues / Monnier, Anne-Sophie / Secq, Véronique / Levy, Nicolas / Badens, Catherine / Fabre, Alexandre

    European journal of medical genetics

    2021  Volume 64, Issue 10, Page(s) 104294

    Abstract: Cytoplasmic aminoacyl-tRNA synthetases (ARSs) are emerging as a cause of numerous rare inherited diseases. Recently, biallelic variants in tyrosyl-tRNA synthetase 1 (YARS1) have been described in ten patients of three families with multi-systemic disease ...

    Abstract Cytoplasmic aminoacyl-tRNA synthetases (ARSs) are emerging as a cause of numerous rare inherited diseases. Recently, biallelic variants in tyrosyl-tRNA synthetase 1 (YARS1) have been described in ten patients of three families with multi-systemic disease (failure to thrive, developmental delay, liver dysfunction, and lung cysts). Here, we report an additional subject with overlapping clinical findings, heterozygous for two novel variants in tyrosyl-tRNA synthetase 1 (NM_003680.3(YARS1):c.176T>C; p.(Ile59Thr) and NM_003680.3(YARS1):c.237C>G; p.(Tyr79*) identified by whole exome sequencing. The p.Ile59Thr variant is located in the highly conserved aminoacylation domain of the protein. Compared to subjects previously described, this patient presents a much more severe condition. Our findings support implication of two novel YARS1 variants in these disorders. Furthermore, we provide evidence for a reduced protein abundance in cells of the patient, in favor of a partial loss-of-function mechanism.
    MeSH term(s) Developmental Disabilities/genetics ; Developmental Disabilities/pathology ; Failure to Thrive/genetics ; Failure to Thrive/pathology ; Female ; Humans ; Infant ; Liver Diseases/genetics ; Liver Diseases/pathology ; Loss of Function Mutation ; Lung Diseases/genetics ; Lung Diseases/pathology ; Tyrosine-tRNA Ligase/genetics
    Chemical Substances Tyrosine-tRNA Ligase (EC 6.1.1.1)
    Language English
    Publishing date 2021-08-03
    Publishing country Netherlands
    Document type Case Reports ; Journal Article
    ZDB-ID 2184135-4
    ISSN 1878-0849 ; 1769-7212
    ISSN (online) 1878-0849
    ISSN 1769-7212
    DOI 10.1016/j.ejmg.2021.104294
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 84/9: Show issues Location:
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  5. Article ; Online: Correlation Between Clinical Signs and High-resolution Manometry Data in Children.

    Juzaud, Marine / Lamblin, Marie-Dominique / Fabre, Alexandre / Alessandrini, Marine / Baumstarck, Karine / Bazin, Camille / Esteve, Clothilde / Laborde, Nolwenn / Osei, Lindsay / Michaud, Laurent / Gottrand, Frederic / Vitton, Veronique

    Journal of pediatric gastroenterology and nutrition

    2019  Volume 68, Issue 5, Page(s) 642–647

    Abstract: Objectives: High-resolution manometry (HRM) is the gold standard for diagnosis of esophageal motility disorders. However, clinical signs associated with these disorders are nonspecific, and it is difficult to correlate clinical signs with HRM data. The ... ...

    Abstract Objectives: High-resolution manometry (HRM) is the gold standard for diagnosis of esophageal motility disorders. However, clinical signs associated with these disorders are nonspecific, and it is difficult to correlate clinical signs with HRM data. The main objective of our study was to assess the positive predictive value (PPV) and negative predictive value (NPV) of each clinical sign, as well as their sensitivity and specificity in the diagnosis of esophageal motility disorders.
    Methods: This is a bicentric retrospective cohort study based on HRM data collected between May 2012 and May 2016. The studied symptoms were weight loss, feeding difficulties, swallowing disorders, dysphagia, food blockages, vomiting, gastroesophageal reflux disease (GERD), belching, and respiratory symptoms. HRM data were analyzed according to the Chicago Classification (3.0).
    Results: In total, 271 HRM data were analyzed, of which 90.4% showed abnormal results. HRM was well tolerated in 91% of the cases. The most common esophageal motility disorder was ineffective esophageal motility (38%). Weight loss was significantly associated (P = 0.003) with an abnormal HRM with a 96% PPV.
    Conclusions: With nonspecific clinical signs suggesting an esophageal motility disorder, weight loss was a predictive sign of abnormal HRM results. HRM was well tolerated in pediatric patients, and ineffective esophageal motility appears to be the most frequent motility disorder in our cohort, as already observed in adult patient studies.
    MeSH term(s) Adolescent ; Child ; Child, Preschool ; Esophageal Motility Disorders/diagnosis ; Female ; Humans ; Infant ; Infant, Newborn ; Male ; Manometry/methods ; Manometry/statistics & numerical data ; Predictive Value of Tests ; Reproducibility of Results ; Retrospective Studies ; Sensitivity and Specificity ; Symptom Assessment/statistics & numerical data ; Weight Loss ; Young Adult
    Language English
    Publishing date 2019-01-09
    Publishing country United States
    Document type Evaluation Study ; Journal Article ; Multicenter Study
    ZDB-ID 603201-1
    ISSN 1536-4801 ; 0277-2116
    ISSN (online) 1536-4801
    ISSN 0277-2116
    DOI 10.1097/MPG.0000000000002232
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: Two novel missense mutations in FGD4/FRABIN cause Charcot-Marie-Tooth type 4H (CMT4H).

    Baudot, Cécile / Esteve, Clothilde / Castro, Christel / Poitelon, Yannick / Mas, Camille / Hamadouche, Tarik / El-Rajab, Maryam / Lévy, Nicolas / Megarbané, André / Delague, Valérie

    Journal of the peripheral nervous system : JPNS

    2012  Volume 17, Issue 2, Page(s) 141–146

    Abstract: By sequencing of the FGD4 coding sequence in a cohort of 101 patients affected by autosomal recessive demyelinating Charcot-Marie-Tooth disease (CMT), we have identified two novel missense mutations in FGD4 in two patients from consanguineous descent: p ... ...

    Abstract By sequencing of the FGD4 coding sequence in a cohort of 101 patients affected by autosomal recessive demyelinating Charcot-Marie-Tooth disease (CMT), we have identified two novel missense mutations in FGD4 in two patients from consanguineous descent: p.Arg442His in an Algerian patient and p.Met566Ile in a Lebanese girl. The patients present early onset, slowly progressive CMT, with drastic reduction of nerve conduction velocities. These mutations are the second and third missense mutations characterized in FGD4. They are likely to lead to conformational changes in the PH1 and FYVE domains.
    MeSH term(s) Adolescent ; Charcot-Marie-Tooth Disease/genetics ; Child, Preschool ; DNA Mutational Analysis ; Female ; Humans ; Male ; Microfilament Proteins/genetics ; Mutation, Missense ; Pedigree ; Reverse Transcriptase Polymerase Chain Reaction
    Chemical Substances FGD4 protein, human ; Microfilament Proteins
    Language English
    Publishing date 2012-06
    Publishing country United States
    Document type Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1364009-4
    ISSN 1529-8027 ; 1085-9489
    ISSN (online) 1529-8027
    ISSN 1085-9489
    DOI 10.1111/j.1529-8027.2012.00405.x
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 5106: Show issues Location:
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  7. Article ; Online: Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility.

    Esteve, Clothilde / Francescatto, Ludmila / Tan, Perciliz L / Bourchany, Aurélie / De Leusse, Cécile / Marinier, Evelyne / Blanchard, Arnaud / Bourgeois, Patrice / Brochier-Armanet, Céline / Bruel, Ange-Line / Delarue, Arnauld / Duffourd, Yannis / Ecochard-Dugelay, Emmanuelle / Hery, Géraldine / Huet, Frédéric / Gauchez, Philippe / Gonzales, Emmanuel / Guettier-Bouttier, Catherine / Komuta, Mina /
    Lacoste, Caroline / Maudinas, Raphaelle / Mazodier, Karin / Rimet, Yves / Rivière, Jean-Baptiste / Roquelaure, Bertrand / Sigaudy, Sabine / Stephenne, Xavier / Thauvin-Robinet, Christel / Thevenon, Julien / Sarles, Jacques / Levy, Nicolas / Badens, Catherine / Goulet, Olivier / Hugot, Jean-Pierre / Katsanis, Nicholas / Faivre, Laurence / Fabre, Alexandre

    American journal of human genetics

    2018  Volume 102, Issue 3, Page(s) 364–374

    Abstract: Despite the rapid discovery of genes for rare genetic disorders, we continue to encounter individuals presenting with syndromic manifestations. Here, we have studied four affected people in three families presenting with cholestasis, congenital diarrhea, ...

    Abstract Despite the rapid discovery of genes for rare genetic disorders, we continue to encounter individuals presenting with syndromic manifestations. Here, we have studied four affected people in three families presenting with cholestasis, congenital diarrhea, impaired hearing, and bone fragility. Whole-exome sequencing of all affected individuals and their parents identified biallelic mutations in Unc-45 Myosin Chaperone A (UNC45A) as a likely driver for this disorder. Subsequent in vitro and in vivo functional studies of the candidate gene indicated a loss-of-function paradigm, wherein mutations attenuated or abolished protein activity with concomitant defects in gut development and function.
    MeSH term(s) Adolescent ; Animals ; Bone and Bones/pathology ; Child, Preschool ; Cholestasis/genetics ; Diarrhea/genetics ; Diarrhea/physiopathology ; Family ; Female ; Fibroblasts/pathology ; Gastrointestinal Motility ; Hearing Loss/genetics ; Humans ; Infant, Newborn ; Intracellular Signaling Peptides and Proteins/genetics ; Loss of Function Mutation/genetics ; Lymphocytes/pathology ; Male ; Pedigree ; Phenotype ; Syndrome ; Young Adult ; Zebrafish
    Chemical Substances Intracellular Signaling Peptides and Proteins ; UNC45A protein, human
    Language English
    Publishing date 2018-02-08
    Publishing country United States
    Document type Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 219384-x
    ISSN 1537-6605 ; 0002-9297
    ISSN (online) 1537-6605
    ISSN 0002-9297
    DOI 10.1016/j.ajhg.2018.01.009
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