Genetic disruption of mammalian endoplasmic reticulum‐associated protein degradation: Human phenotypes and animal and cellular disease models
Endoplasmic reticulum‐associated protein degradation (ERAD) is a stringent quality control
mechanism through which misfolded, unassembled and some native proteins are targeted …
mechanism through which misfolded, unassembled and some native proteins are targeted …
Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data
We examined the utility of clinical and research processes in the reanalysis of publicly‐
funded clinical exome sequencing data in Ontario, Canada. In partnership with eight sites …
funded clinical exome sequencing data in Ontario, Canada. In partnership with eight sites …
STIGMA: Single-cell tissue-specific gene prioritization using machine learning
S Balachandran, CA Prada-Medina, MA Mensah… - The American Journal of …, 2024 - cell.com
Clinical exome and genome sequencing have revolutionized the understanding of human
disease genetics. Yet many genes remain functionally uncharacterized, complicating the …
disease genetics. Yet many genes remain functionally uncharacterized, complicating the …
Exome sequencing links the SUMO protease SENP7 with fatal arthrogryposis multiplex congenita, early respiratory failure and neutropenia
N Samra, NS Jansen, I Morani, RR Kakun… - Journal of Medical …, 2023 - jmg.bmj.com
Background SUMOylation involves the attachment of small ubiquitin-like modifier (SUMO)
proteins to specific lysine residues on thousands of substrates with target-specific effects on …
proteins to specific lysine residues on thousands of substrates with target-specific effects on …
A somatic UBA2 variant preceded ETV6-RUNX1 in the concordant BCP-ALL of monozygotic twins
Genetic analysis of leukemic clones in monozygotic twins with concordant acute
lymphoblastic leukemia (ALL) has proved a unique opportunity to gain insight into the …
lymphoblastic leukemia (ALL) has proved a unique opportunity to gain insight into the …
Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data
A Hardcastle, AM Berry, IM Campbell… - American Journal of …, 2022 - Wiley Online Library
Congenital diaphragmatic hernia (CDH) can occur in isolation or in conjunction with other
birth defects (CDH+). A molecular etiology can only be identified in a subset of CDH cases …
birth defects (CDH+). A molecular etiology can only be identified in a subset of CDH cases …
Variable clinical presentation of split hand/foot malformation syndrome in a family with microduplication of 10q24. 32: a case report
D Akimova, T Markova, M Ampleeva… - Frontiers in Genetics, 2024 - frontiersin.org
SHFM (Split Hand/Foot Malformation) is a heterogeneous group of disorders characterized
by the presence of clefts in the hands and feet, along with syndactyly of the digits. In this …
by the presence of clefts in the hands and feet, along with syndactyly of the digits. In this …
A novel frameshift variant in UBA2 causing split-hand/foot malformations in a Pakistani family
Split-hand/foot malformation (SHFM) shows diverse heterogeneity and manifests with
reduced penetrance and variable expressivity. This study investigated the underlying …
reduced penetrance and variable expressivity. This study investigated the underlying …
Untersuchung des diagnostischen Potenzials der Ganzgenomsequenzierung am Beispiel von 69 Fällen mit angeborenen Extremitätenfehlbildungen
J Elsner - 2023 - refubium.fu-berlin.de
Seit der Sequenzierung des ersten menschlichen Genoms 2001 hat die Ganz-Genom-
Analyse (Whole-Genome-Sequencing, WGS) große Fortschritte gemacht. Mittlerweile ist es …
Analyse (Whole-Genome-Sequencing, WGS) große Fortschritte gemacht. Mittlerweile ist es …
Atypical presentation of ACCES syndrome resembling dominant Spondyloepiphyseal dysplasia tarda
A Sezer, Z Özdemir, E Özkan… - American Journal of … - Wiley Online Library
Abstract Aplasia Cutis Congenita with Ectrodactyly Skeletal Syndrome (ACCES, OMIM#
619959) is an extremely rare multiple congenital anomalies syndrome caused by …
619959) is an extremely rare multiple congenital anomalies syndrome caused by …