Advances in evaluation of chronic diarrhea in infants

JR Thiagarajah, DS Kamin, S Acra, JD Goldsmith… - Gastroenterology, 2018 - Elsevier
Diarrhea is common in infants (children less than 2 years of age), usually acute, and, if
chronic, commonly caused by allergies and occasionally by infectious agents. Congenital …

[HTML][HTML] The genetics of monogenic intestinal epithelial disorders

SJ Babcock, D Flores-Marin, JR Thiagarajah - Human Genetics, 2023 - Springer
Monogenic intestinal epithelial disorders, also known as congenital diarrheas and
enteropathies (CoDEs), are a group of rare diseases that result from mutations in genes that …

Reduced sodium/proton exchanger NHE3 activity causes congenital sodium diarrhea

AR Janecke, P Heinz-Erian, J Yin… - Human molecular …, 2015 - academic.oup.com
Congenital sodium diarrhea (CSD) refers to an intractable diarrhea of intrauterine onset with
high fecal sodium loss. CSD is clinically and genetically heterogeneous. Syndromic CSD is …

Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy)

JL Hartley, NC Zachos, B Dawood, M Donowitz… - Gastroenterology, 2010 - Elsevier
BACKGROUND & AIMS: Trichohepatoenteric syndrome (THES) is an autosomal-recessive
disorder characterized by life-threatening diarrhea in infancy, immunodeficiency, liver …

Combined use of noninvasive tests is useful in the initial diagnostic approach to a child with suspected inflammatory bowel disease

RB Canani, LT de Horatio, G Terrin… - Journal of pediatric …, 2006 - journals.lww.com
Objective: To assess the effectiveness of the combined use of fecal calprotectin (FC), anti-
Saccharomyces cerevisiae antibody (ASCA), perinuclear staining antineutrophil antibody …

Membrane-anchored serine proteases in vertebrate cell and developmental biology

R Szabo, TH Bugge - Annual review of cell and developmental …, 2011 - annualreviews.org
Analysis of vertebrate genome sequences at the turn of the millennium revealed that a vastly
larger repertoire of enzymes execute proteolytic cleavage reactions within the pericellular …

Regulation of cell surface protease matriptase by HAI2 is essential for placental development, neural tube closure and embryonic survival in mice

R Szabo, JP Hobson, K Christoph, P Kosa, K List… - 2009 - journals.biologists.com
Hypomorphic mutations in the human SPINT2 gene cause a broad spectrum of
abnormalities in organogenesis, including organ and digit duplications, atresia, fistulas …

Clinical geneticists' views of VACTERL/VATER association

BD Solomon, KA Bear, V Kimonis… - American journal of …, 2012 - Wiley Online Library
VACTERL association (sometimes termed “VATER association” depending on which
component features are included) is typically defined by the presence of at least three of the …

Congenital secretory diarrhoea caused by activating germline mutations in GUCY2C

T Müller, I Rasool, P Heinz-Erian, E Mildenberger… - Gut, 2016 - gut.bmj.com
Objective Congenital sodium diarrhoea (CSD) refers to a form of secretory diarrhoea with
intrauterine onset and high faecal losses of sodium without congenital malformations. The …

Extensive admixture and selective pressure across the Sahel Belt

P Triska, P Soares, E Patin, V Fernandes… - Genome biology and …, 2015 - academic.oup.com
Genome-wide studies of African populations have the potential to reveal powerful insights
into the evolution of our species, as these diverse populations have been exposed to …