From disease description and gene discovery to functional cell pathway: A decade-long journey for TMCO1
H Batchelor-Regan, B Xin, A Zhou, H Wang - Frontiers in Genetics, 2021 - frontiersin.org
A decade has passed since transmembrane coiled-coil domains 1 (TMCO1) defect
syndrome was identified in 11 undiagnosed patients within the Old Order Amish of …
syndrome was identified in 11 undiagnosed patients within the Old Order Amish of …
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome-1 in two new patients with the same homozygous TMCO1 variant and …
IM Abdelrazek, T Holling, FL Harms, M Alawi… - European Journal of …, 2023 - Elsevier
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development
syndrome-1 (CFSMR1; OMIM# 213980) is a rare autosomal recessive disorder …
syndrome-1 (CFSMR1; OMIM# 213980) is a rare autosomal recessive disorder …
Uniparental disomy screen of Irish rare disorder cohort unmasks homozygous variants of clinical significance in the TMCO1 and PRKRA genes
B Molloy, ER Jones, ND Linhares, PG Buckley… - Frontiers in …, 2022 - frontiersin.org
A uniparental disomy (UPD) screen using whole genome sequencing (WGS) data from 164
trios with rare disorders in the Irish population was performed to identify large runs of …
trios with rare disorders in the Irish population was performed to identify large runs of …
A novel biallelic loss‐of‐function mutation in TMCO1 gene confirming and expanding the phenotype spectrum of cerebro‐facio‐thoracic dysplasia
R Sharkia, A Zalan, A Jabareen‐Masri… - American Journal of …, 2019 - Wiley Online Library
The main clinical features of cerebro‐facio‐thoracic dysplasia (CFTD) syndrome, which
were described over four decades ago, include facial dysmorphism, multiple malformations …
were described over four decades ago, include facial dysmorphism, multiple malformations …
Expression, purification and characterization of TMCO1 for structural studies
Transmembrane and coiled-coil domains 1 (TMCO1) has a highly conserved amino acid
sequence among species, indicating a critical role of TMCO1 in cell physiology. The …
sequence among species, indicating a critical role of TMCO1 in cell physiology. The …
Clinical and molecular investigation of rare genetic overgrowth disorders
AC Foster - 2023 - etheses.bham.ac.uk
Genetic overgrowth disorders are a group of rare conditions characterised by generalised
and/or regional overgrowth. They are associated with a wide spectrum of clinical features …
and/or regional overgrowth. They are associated with a wide spectrum of clinical features …
Assessing the Functional Properties of the TMCO1 Sequence Variants by Using In Silico Analyses
Transmembrane and Coiled-Coil Domains 1 (TMCO1) protein is encoded by TMCO1 gene
consists of 7 exons. Previous studies have identified multiple TMCO1 variants in patients …
consists of 7 exons. Previous studies have identified multiple TMCO1 variants in patients …
Posible variante del Síndrome de Pascual Castroviejo tipo II
EMS Pérez, AS Lavastida, LC Ramírez… - Revista Cubana de …, 2020 - medigraphic.com
Objetivo: Describir las características clínicas e imagenológicas en una paciente con una
posible variante del síndrome de Pascual Castroviejo tipo II. Caso clínico: Se presenta una …
posible variante del síndrome de Pascual Castroviejo tipo II. Caso clínico: Se presenta una …
Possible variant of type II Pascual Castroviejo Syndrome
EMS Pérez, AS Lavastida, LC Ramírez… - Revista Cubana de …, 2020 - medigraphic.com
Objective: To describe the clinical and imaging characteristics in a patient with a possible
variant of type II Pascual Castroviejo syndrome. Clinical case: A 44-year-old female patient …
variant of type II Pascual Castroviejo syndrome. Clinical case: A 44-year-old female patient …