Results 111 to 120 of about 8,343 (220)
The 22q11.2 Deletion Syndrome: A Gene Dosage Perspective
The Scientific World Journal, 2006 The 22q11.2 deletion/DiGeorge syndrome is a relatively common “genomic” disorder that results from heterozygous deletion of a 3-Mbp segment of chromosome 22.
Antonio Baldini
doaj +1 more source
Spatiotemporal expression of zic genes during vertebrate inner ear development [PDF]
, 2013 Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/98245/1/dvdy23978 ...
Barald, Kate F. +2 more
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Mesodermal Tbx1 is required for patterning the proximal mandible in mice
Developmental Biology, 2010 Defects in the lower jaw, or mandible, occur commonly either as isolated malformations or in association with genetic syndromes. Understanding its formation and genetic pathways required for shaping its structure in mammalian model organisms will shed light into the pathogenesis of malformations in humans.
Aggarwal, Vimla S. +5 more
openaire +2 more sources
Transcriptional regulation of thyroid development possible interplay of endoderm- and mesoderm-derived morphogenetic signals [PDF]
, 2008 Congenital hypothyroidism (CH) affects 1 in 3000 children and is the major cause of treatable mental retardation. Most cases are due to malformations of the gland, collectively named thyroid dysgenesis.
Westerlund, Jessica
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Genetic and Developmental Basis of Cardiovascular Malformations [PDF]
, 2016 Cardiovascular malformations (CVMs) are the most common birth defect, occurring in 1% to 5% of all live births. Genetic, epigenetic, and environmental factors all influence the development of CVMs, and an improved understanding of the causation of CVMs ...
Azhar, Mohamad, Ware, Stephanie M.
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Developmental and evolutionary origins of the pharyngeal apparatus [PDF]
, 2012 The vertebrate pharyngeal apparatus, serving the dual functions of feeding and respiration, has its embryonic origin in a series of bulges found on the lateral surface of the head, the pharyngeal arches.
Anthony Graham, Jo Richardson
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Autophagy in Myf5+ progenitors regulates energy and glucose homeostasis through control of brown fat and skeletal muscle development [PDF]
, 2013 Macroautophagy (MA) regulates cellular quality control and energy balance. For example, loss of MA in aP2-positive adipocytes converts white adipose tissue (WAT) into brown adipose tissue (BAT)-like, enhancing BAT function and thereby insulin sensitivity.
Claire C Bastie +9 more
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Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification. [PDF]
, 2020 Since 2013, the International Union of Immunological Societies (IUIS) expert committee (EC) on Inborn Errors of Immunity (IEI) has published an updated phenotypic classification of IEI, which accompanies and complements their genotypic classification ...
Ailal, Fatima +18 more
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