Results 11 to 20 of about 227 (76)

Sensing of RNA stress by mTORC1 drives autoinflammation [PDF]

The Journal of Clinical Investigation, 2022
Loss-of-function mutations in SKIV2L underlie trichohepatoenteric syndrome (THES2), a rare inborn error of immunity characterized by diarrhea, skin lesions, brittle hair, and immunodeficiency. SKIV2L is part of a multiprotein complex required for exosome-
Min Ae Lee-Kirsch
doaj   +2 more sources

Clinical Spectrum of Cutaneous, Ocular, and Hair Manifestations in Patients With Inborn Errors of Immunity: Insights From a Single Center in Turkey [PDF]

Immun Inflamm Dis
ABSTRACT Background Inborn errors of immunity (IEI), previously referred to as primary immunodeficiencies, are a heterogeneous group of genetic disorders affecting immune development and function. While once considered rare, IEIs are increasingly recognized, particularly in regions with high consanguinity rates.
Yılmaz B, Sarikavak S, Naiboglu S, Kalay G, Cakmak E, Ucar O, Ulas S, Kapci N, Gokmirza P, Aydogmus C.   +9 more
europepmc   +2 more sources

Factors associated with accelerated parenteral weaning in children with intestinal failure: A descriptive cohort study. [PDF]

JPEN J Parenter Enteral Nutr
Abstract Background The goal of intestinal rehabilitation in children is to wean from parenteral nutrition (PN). The aim of this study was to identify factors associated with accelerated weaning and to evaluate long‐term outcomes of children receiving long‐term PN.
Moran-Lev H, Kocoshis SA, Córdova Amador I, Mukasa M, Oliveira SB, Helmrath M, Cole CR.   +6 more
europepmc   +2 more sources

Long term outcomes in children with trichohepatoenteric syndrome

American Journal of Medical Genetics, Part A
Abstract Trichohepatoenteric syndrome (THES) is a rare autosomal recessive disorder caused by mutations in either TTC37 or SKIV2L, usually leading to congenital diarrhea as part of a multisystem disease. Here, we report on the natural history of the disease for the largest UK cohort of patients with THES from 1996 to 2020.
Kwang Yang Lee, Wolfram Haller, Tracey Johnson   +2 more
exaly   +2 more sources

Corrigendum: Novel TTC37 Mutations in a Patient with Immunodeficiency without Diarrhea: Extending the Phenotype of Trichohepatoenteric Syndrome. [PDF]

Frontiers in Pediatrics, 2015
Nicholas L Rider, Nicholas L Rider
doaj   +2 more sources

Mutations in TTC37 Cause Trichohepatoenteric Syndrome (Phenotypic Diarrhea of Infancy) [PDF]

Gastroenterology, 2010
Rodney J Pollitt, Neil V Morgan, Louise Tee   +2 more
exaly   +2 more sources

Tricho-hepato-enteric syndrome: Retrospective multicenter experience in Saudi Arabia

The Saudi Journal of Gastroenterology, 2022
Background: Trichohepatoenteric syndrome (THES) is a very rare disorder that is characterized by intractable congenital diarrhea, woolly hair, intrauterine growth restriction, facial dysmorphism, and short stature. Our knowledge of THES is limited due to
Badr M Alsaleem, Mohammed Hasosah, Amna Basheer M. Ahmed, Maher M Al Hatlani, Aziz Helal Alanazi, Abdulrahman Al-Hussaini, Ali T Asery, Khalid A Alghamdi, Muhanad M AlRuwaithi, Musa Ali M. Khormi, Ahmed Al Sarkhy, Ali S Alshamrani   +11 more
doaj   +1 more source

SKIV2L Mutations Cause Syndromic Diarrhea, or Trichohepatoenteric Syndrome [PDF]

American Journal of Human Genetics, 2012
Alexandre Fabre, Nicolas André, Jean-Pierre Hugot   +2 more
exaly   +2 more sources

[Retracted] TTC7B Is a Novel Prognostic‐Related Biomarker in Glioma Correlating with Immune Infiltrates and Response to Oxidative Stress by Temozolomide

Oxidative Medicine and Cellular Longevity, Volume 2022, Issue 1, 2022., 2022
Background. Gliomas are one of the most prevalent malignant brain tumors. Hence, identifying biological markers for glioma is imperative. TTC7B (Tetratricopeptide Repeat Domain 7B) is a gene whose role in cancer in currently identified. To this end, we examined the TTC7B expression as well as its prognostic significance, biological roles, and immune ...
Zhenhua Chen, Shasha Cui, Yong Dai, Chunfeng Lu, Huan Zhang, Wei Zhao, Hongyan Yan, Yi Zhang, Md Sayed Ali Sheikh   +8 more
wiley   +1 more source

The potential diagnostic yield of whole exome sequencing in pregnancies complicated by fetal ultrasound anomalies

Acta Obstetricia et Gynecologica Scandinavica, Volume 100, Issue 6, Page 1106-1115, June 2021., 2021
Abstract Introduction The aim of this retrospective cohort study was to determine the potential diagnostic yield of prenatal whole exome sequencing in fetuses with structural anomalies on expert ultrasound scans and normal chromosomal microarray results.
Karin E. M. Diderich, Kathleen Romijn, Marieke Joosten, Lutgarde C. P. Govaerts, Marike Polak, Hennie T. Bruggenwirth, Martina Wilke, Marjon A. van Slegtenhorst, Yolande van Bever, Alice S. Brooks, Grazia M. S. Mancini, Ingrid M. B. H. van de Laar, Joan N. R. Kromosoeto, Maarten F. C. M. Knapen, Attie T. J. I. Go, Diane Van Opstal, Lies H. Hoefsloot, Robert‐Jan H. Galjaard, Malgorzata I. Srebniak   +18 more
wiley   +1 more source