Related references
Note: Only part of the references are listed.The human SKI complex regulates channeling of ribosome-bound RNA to the exosome via an intrinsic gatekeeping mechanism
Alexander Kogel et al.
MOLECULAR CELL (2022)
Cytoplasmic RNA quality control failure engages mTORC1-mediated autoinflammatory disease
Kun Yang et al.
JOURNAL OF CLINICAL INVESTIGATION (2022)
Case Report: Novel Compound-Heterozygous Variants of SKIV2L Gene that Cause Trichohepatoenteric Syndrome 2
Qiao Zhang et al.
FRONTIERS IN GENETICS (2021)
QMEANDisCo-distance constraints applied on model quality estimation
Gabriel Studer et al.
BIOINFORMATICS (2020)
Tricho-hepatic-enteric syndrome (THES) without intractable diarrhoea
C. Poulton et al.
GENE (2019)
A Novel TTC37 Mutation Causing Clinical Symptoms of Trichohepatoenteric Syndrome Such as Pyoderma Gangrenosum and Immunodeficiency Without Severe Diarrhea
Karaca N. Edeer et al.
JOURNAL OF INVESTIGATIONAL ALLERGOLOGY AND CLINICAL IMMUNOLOGY (2019)
mTORC1 Activation in Osteoclasts Prevents Bone Loss in a Mouse Model of Osteoporosis
Manami Hiraiwa et al.
FRONTIERS IN PHARMACOLOGY (2019)
Establishment and depletion of the ovarian reserve: physiology and impact of environmental chemicals
Wei Ge et al.
CELLULAR AND MOLECULAR LIFE SCIENCES (2019)
Tricho-Hepato-Enteric Syndromemutation update: Mutations spectrum of TTC37 and SKIV2L, clinical analysis and future prospects
Patrice Bourgeois et al.
HUMAN MUTATION (2018)
SWISS-MODEL: homology modelling of protein structures and complexes
Andrew Waterhouse et al.
NUCLEIC ACIDS RESEARCH (2018)
Osteocyte-intrinsic mTORC1 signaling restrains trabecular bone accrual in mice
Qingbai Liu et al.
JOURNAL OF CELLULAR BIOCHEMISTRY (2018)
The SWISS-MODEL Repository-new features and functionality
Stefan Bienert et al.
NUCLEIC ACIDS RESEARCH (2017)
ESTROGENS AND ANDROGENS IN SKELETAL PHYSIOLOGY AND PATHOPHYSIOLOGY
Maria Almeida et al.
PHYSIOLOGICAL REVIEWS (2017)
Modeling protein quaternary structure of homo- and hetero-oligomers beyond binary interactions by homology
Martino Bertoni et al.
SCIENTIFIC REPORTS (2017)
Management of syndromic diarrhea/tricho-hepato-enteric syndrome: A review of the literature
Alexandre Fabre et al.
INTRACTABLE & RARE DISEASES RESEARCH (2017)
cutPrimers: A New Tool for Accurate Cutting of Primers from Reads of Targeted Next Generation Sequencing
Andrey Kechin et al.
JOURNAL OF COMPUTATIONAL BIOLOGY (2017)
Novel mutations in SKIV2L and TTC37 genes in Malaysian children with trichohepatoenteric syndrome
Way Seah Lee et al.
GENE (2016)
ESHRE Guideline: management of women with premature ovarian insufficiency
L. Webber et al.
HUMAN REPRODUCTION (2016)
Identifying Mutations of the Tetratricopeptide Repeat Domain 37 (TTC37) Gene in Infants With Intractable Diarrhea and a Comparison of Asian and Non-Asian Phenotype and Genotype A Global Case-report Study of a Well-Defined Syndrome With Immunodeficiency
Wen-I Lee et al.
MEDICINE (2016)
Targeted next-generation sequencing identification of a novel missense mutation of the SKIV2L gene in a patient with trichohepatoenteric syndrome
Bixia Zheng et al.
MOLECULAR MEDICINE REPORTS (2016)
Tricho-hepato-enteric syndrome (THE-S): two cases and review of the literature
Jin Ho Chong et al.
EUROPEAN JOURNAL OF PEDIATRICS (2015)
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Sue Richards et al.
GENETICS IN MEDICINE (2015)
Mutation analysis of Chinese sporadic congenital sideroblastic anemia by targeted capture sequencing
Wenbin An et al.
JOURNAL OF HEMATOLOGY & ONCOLOGY (2015)
Novel TTC37 mutations in a patient with immunodeficiency without diarrhea: extending the phenotype of trichohepatoenteric syndrome
Nicholas L. Rider et al.
FRONTIERS IN PEDIATRICS (2015)
The SKIV2L RNA exosome limits activation of the RIG-I-like receptors
Sterling C. Eckard et al.
NATURE IMMUNOLOGY (2014)
Human Mendelian diseases related to abnormalities of the RNA exosome or its cofactors
Alexandre Fabre et al.
INTRACTABLE & RARE DISEASES RESEARCH (2014)
SKIV2L Mutations Cause Syndromic Diarrhea, or Trichohepatoenteric Syndrome
Alexandre Fabre et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
Mutations in TTC37 Cause Trichohepatoenteric Syndrome (Phenotypic Diarrhea of Infancy)
Jane Louise Hartley et al.
GASTROENTEROLOGY (2010)
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
Kai Wang et al.
NUCLEIC ACIDS RESEARCH (2010)
Fast and accurate short read alignment with Burrows-Wheeler transform
Heng Li et al.
BIOINFORMATICS (2009)
Automated comparative protein structure modeling with SWISS-MODEL and Swiss-PdbViewer: A historical perspective
Nicolas Guex et al.
ELECTROPHORESIS (2009)
Premature ovarian failure
Paolo Beck-Peccoz et al.
ORPHANET JOURNAL OF RARE DISEASES (2006)
Pathogenesis of osteoporosis: concepts, conflicts, and prospects
LG Raisz
JOURNAL OF CLINICAL INVESTIGATION (2005)
Share Paper
