Results 31 to 40 of about 227 (76)

76 | DECODING THES PATHOGENESIS: HOW TTC37 SHAPES GUT HOMEOSTASIS AND PERISTALSIS

open access: yesEuropean Journal of Histochemistry
Trichohepatoenteric Syndrome (THES) is an ultra-rare, multisystem disorder caused by biallelic mutations in the TTC37 or SKIV2L genes, which encode essential subunits of the SKI complex, a cofactor for the RNA exosome. The hallmark of THES is intractable
GEI - SOCIETÀ ITALIANA DI BIOLOGIA DELLO SVILUPPO E DELLA CELLULA
doaj   +1 more source

Dual Diagnosis of Trichohepatoenteric Syndrome and Lipoid Proteinosis in a Turkish Child. [PDF]

open access: yesMol Syndromol, 2023
Eser HC   +8 more
europepmc   +1 more source

A yeast model for trichohepatoenteric syndrome suggests strong loss of Ski2 function in most causative mutations. [PDF]

open access: yesMicroPubl Biol, 2022
Orlando LJ   +5 more
europepmc   +1 more source

A New Variant Mutation in SKIV2L Gene in Case of Trichohepatoenteric Syndrome. [PDF]

open access: yesPediatr Rep, 2020
Taher ZA   +4 more
europepmc   +1 more source

The Multifaceted Syndromic Primary Immunodeficiencies in Children. [PDF]

open access: yesJ Clin Med, 2023
Ng KF   +3 more
europepmc   +1 more source

Trichohepatoenteric syndrome: founder mutation in asian indians. [PDF]

open access: yesMol Syndromol, 2012
Kotecha UH, Movva S, Puri RD, Verma IC.
europepmc   +1 more source

Histopathological Features of Monogenic Inflammatory Bowel Disease: Subanalysis of Systematic Review. [PDF]

open access: yesGastro Hep Adv, 2022
Nambu R   +5 more
europepmc   +1 more source

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