[HTML][HTML] Developmental basis of trachea-esophageal birth defects
NA Edwards, V Shacham-Silverberg, L Weitz… - Developmental …, 2021 - Elsevier
Abstract Trachea-esophageal defects (TEDs), including esophageal atresia (EA),
tracheoesophageal fistula (TEF), and laryngeal-tracheoesophageal clefts (LTEC), are a …
tracheoesophageal fistula (TEF), and laryngeal-tracheoesophageal clefts (LTEC), are a …
Genetics of kidney disease: the unexpected role of rare disorders
MD Elliott, HM Rasouly… - Annual Review of Medicine, 2023 - annualreviews.org
Hundreds of different genetic causes of chronic kidney disease are now recognized, and
while individually rare, taken together they are significant contributors to both adult and …
while individually rare, taken together they are significant contributors to both adult and …
High-impact rare genetic variants in severe schizophrenia
Extreme phenotype sequencing has led to the identification of high-impact rare genetic
variants for many complex disorders but has not been applied to studies of severe …
variants for many complex disorders but has not been applied to studies of severe …
COL11A2 as a candidate gene for vertebral malformations and congenital scoliosis
Human vertebral malformations (VMs) have an estimated incidence of 1/2000 and are
associated with significant health problems including congenital scoliosis (CS) and recurrent …
associated with significant health problems including congenital scoliosis (CS) and recurrent …
Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome
E Engal, KT Oja, R Maroofian, O Geminder… - The American Journal of …, 2023 - cell.com
Over two dozen spliceosome proteins are involved in human diseases, also referred to as
spliceosomopathies. WW domain-binding protein 4 (WBP4) is part of the early spliceosomal …
spliceosomopathies. WW domain-binding protein 4 (WBP4) is part of the early spliceosomal …
Identification and verification of diagnostic biomarkers in recurrent pregnancy loss via machine learning algorithm and WGCNA
C Wei, Y Wei, J Cheng, X Tan, Z Zhou, S Lin… - Frontiers in …, 2023 - frontiersin.org
Background Recurrent pregnancy loss defined as the occurrence of two or more pregnancy
losses before 20-24 weeks of gestation, is a prevalent and significant pathological condition …
losses before 20-24 weeks of gestation, is a prevalent and significant pathological condition …
The splicing factor WBP11 mediates MCM7 intron retention to promote the malignant progression of ovarian cancer
Y Wei, Z Chen, Y Li, K Song - Oncogene, 2024 - nature.com
Accumulating studies suggest that splicing factors play important roles in many diseases
including human cancers. Our study revealed that WBP11, a core splicing factor, is highly …
including human cancers. Our study revealed that WBP11, a core splicing factor, is highly …
Myhre syndrome is caused by dominant-negative dysregulation of SMAD4 and other co-factors
D Alankarage, A Enriquez, RD Steiner, C Raggio… - Differentiation, 2022 - Elsevier
Myhre syndrome is a connective tissue disorder characterized by congenital cardiovascular,
craniofacial, respiratory, skeletal, and cutaneous anomalies as well as intellectual disability …
craniofacial, respiratory, skeletal, and cutaneous anomalies as well as intellectual disability …
[HTML][HTML] Tissue gene expression profiles and communication networks inform candidate blood biomarker identification in psoriasis and atopic dermatitis
Overlapping clinical and pathomechanistic features can complicate the diagnosis and
treatment of inflammatory skin diseases, including psoriasis and atopic dermatitis (AD) …
treatment of inflammatory skin diseases, including psoriasis and atopic dermatitis (AD) …
The emerging significance of splicing in vertebrate development
AM Olthof, AK White, RN Kanadia - Development, 2022 - journals.biologists.com
Splicing is a crucial regulatory node of gene expression that has been leveraged to expand
the proteome from a limited number of genes. Indeed, the vast increase in intron number that …
the proteome from a limited number of genes. Indeed, the vast increase in intron number that …