Results 41 to 50 of about 62,388 (273)

Chondrodystrophic dwarfism and multiple malformations in two sisters. [PDF]

, 1988
A genetic skeletal dysplasia with dwarfism, scoliosis and multiple skeletal defects was observed in two sisters.
Beluffi G, Ceciliani L., PAZZAGLIA, Ugo, Pedrotti L   +3 more
core   +1 more source

Tumour–host interactions in Drosophila: mechanisms in the tumour micro‐ and macroenvironment

Molecular Oncology, EarlyView.
This review examines how tumour–host crosstalk takes place at multiple levels of biological organisation, from local cell competition and immune crosstalk to organism‐wide metabolic and physiological collapse. Here, we integrate findings from Drosophila melanogaster studies that reveal conserved mechanisms through which tumours hijack host systems to ...
José Teles‐Reis, Tor Erik Rusten
wiley   +1 more source

Development of a newborn screening tool for mucopolysaccharidosis type I based on bivariate normal limits: Using glycosaminoglycan and alpha‐L‐iduronidase determinations on dried blood spots to predict symptoms

JIMD Reports, 2020
Purpose Current newborn screening (NBS) for mucopolysaccharidosis type I (MPSI) has very high false positive rates and low positive predictive values (PPVs).
Thomas J. Langan, Kabir Jalal, Amy L. Barczykowski, Randy L. Carter, Molly Stapleton, Kenji Orii, Toshiyuki Fukao, Hironori Kobayashi, Seiji Yamaguchi, Shunji Tomatsu   +9 more
doaj   +1 more source

Colorectal cancer‐derived FGF19 is a metabolically active serum biomarker that exerts enteroendocrine effects on mouse liver

Molecular Oncology, EarlyView.
Meta‐transcriptome analysis identified FGF19 as a peptide enteroendocrine hormone associated with colorectal cancer prognosis. In vivo xenograft models showed release of FGF19 into the blood at levels that correlated with tumor volumes. Tumoral‐FGF19 altered murine liver metabolism through FGFR4, thereby reducing bile acid synthesis and increasing ...
Jordan M. Beardsley, Michael W. Rohr, Joseph A. Goode, Sai Preethi Nakkina, Jignesh G. Parikh, Deborah A. Altomare   +5 more
wiley   +1 more source

Achondroplasia and hypochondroplasia in France: a nationwide epidemiological analysis

Orphanet Journal of Rare Diseases
Background Achondroplasia (ACH) and hypochondroplasia (HCH) are among the most common forms of skeletal dysplasia, caused by gain-of-function variants in the FGFR3 gene, leading to disproportionate short stature.
Genevieve Baujat, Marc-Antoine Hamandjian, Anne-Sophie Jannot, Pierre Karam, Valérie Cormier-Daire   +4 more
doaj   +1 more source

Paleopathological Study of Dwarfism-Related Skeletal Dysplasia in a Late Joseon Dynasty (South Korean) Population. [PDF]

PLoS ONE, 2015
Skeletal dysplasias related to genetic etiologies have rarely been reported for past populations. This report presents the skeletal characteristics of an individual with dwarfism-related skeletal dysplasia from South Korea. To assess abnormal deformities,
Eun Jin Woo, Won-Joon Lee, Kyung-Seok Hu, Jae Joon Hwang   +3 more
doaj   +1 more source

Clinical findings associated with a de novo partial trisomy 10p11.22p15.3 and monosomy 7p22.3 detected by chromosomal microarray analysis. [PDF]

, 2011
We present the case of an 18-month-old boy with dysmorphic facial features, developmental delay, growth retardation, bilateral clubfeet, thrombocytopenia, and strabismus, whose array CGH analysis revealed concurrent de novo trisomy 10p11.22p15.3 and ...
Dipple, Katrina M, Kohannim, Omid, Peredo, Jane, Quintero-Rivera, Fabiola   +3 more
core   +2 more sources

Functional Mapping of Neurodevelopmental Disease Pathways to Key Neurodevelopmental Processes Represented in the Developmental Neurotoxicity In Vitro Testing Battery

Advanced Science, EarlyView.
Human‐relevant methods are essential for modern chemical safety assessment. This study helps define the capabilities and boundaries of an in vitro testing battery for developmental neurotoxicity by exploring its biological applicability domain. By linking neurodevelopmental disease‐related pathways to key neurodevelopmental processes, the work enhances
Eliska Kuchovska, Kristina Bartmann, Georgea Raad, Mats Schade, Luiz Ladeira, Arif Dönmez, Jördis Klose, Nicolai Görts, Denis Polozij, Lynn‐Christin Saborowski, Farina Bendt, Bernard Staumont, Liesbet Geris, Katharina Koch, Ellen Fritsche   +14 more
wiley   +1 more source

Anauxetic dysplasia: A rare clinical entity

The Turkish Journal of Pediatrics, 2018
Cartilage hair hypoplasia and anauxetic dysplasia spectrum constitute a group of autosomal recessive disorders characterized by variable extent of metaphyseal to spondylometaepiphyseal involvement and various additional clinical features.
Özlem Akgün-Doğan, Pelin Özlem Şimsek-Kiper, Gülen Eda Utine, Koray Boduroğlu   +3 more
doaj   +1 more source

Case of Monostotic Fibrous Dysplasia in the hand [PDF]

, 2002
A case of monostotic fibrous dysplasia in the proximal phalanx of an otherwise healthy, twenty-five year old is discussed. Fibrous dysplasia in the hand is rarely seen. Our patient presented with a swelling in his proximal phalanx.
Attard, Gerhardt, Sciberras, Carmel, Zammit, Jason   +2 more
core