Annual Review of Genomics and Human Genetics This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

The SWI/SNF Complex in Neural Crest Cell Development and Disease
Annu Rev Genomics Hum Genet. 2023 Aug 25;24:203-223. doi: 10.1146/annurev-genom-011723-082913.ABSTRACTWhile the neural crest cell population gives rise to an extraordinary array of derivatives, including elements of the craniofacial skeleton, skin pigmentation, and peripheral nervous system, it is today increasingly recognized that Schwann cell precursors are also multipotent. Two mammalian paralogs of the SWI/SNF (switch/sucrose nonfermentable) chromatin-remodeling complexes, BAF (Brg1-associated factors) and PBAF (polybromo-associated BAF), are critical for neural crest specification during normal mammalian development. ...
Source: Annual Review of Genomics and Human Genetics - August 25, 2023 Category: Genetics & Stem Cells Authors: Daniel M Fountain Tatjana Sauka-Spengler Source Type: research

TGF- β and BMP Signaling Pathways in Skeletal Dysplasia with Short and Tall Stature
Annu Rev Genomics Hum Genet. 2023 Aug 25;24:225-253. doi: 10.1146/annurev-genom-120922-094107.ABSTRACTThe transforming growth factor β (TGF-β) and bone morphogenetic protein (BMP) signaling pathways play a pivotal role in bone development and skeletal health. More than 30 different types of skeletal dysplasia are now known to be caused by pathogenic variants in genes that belong to the TGF-β superfamily and/or regulate TGF-β/BMP bioavailability. This review describes the latest advances in skeletal dysplasia that is due to impaired TGF-β/BMP signaling and results in short stature (acromelic dysplasia and cardiospondyl...
Source: Annual Review of Genomics and Human Genetics - August 25, 2023 Category: Genetics & Stem Cells Authors: Alice Costantini Alessandra Guasto Val érie Cormier-Daire Source Type: research

The Genetic Determinants of Axial Length: From Microphthalmia to High Myopia in Childhood
Annu Rev Genomics Hum Genet. 2023 Aug 25;24:177-202. doi: 10.1146/annurev-genom-102722-090617.ABSTRACTThe axial length of the eye is critical for normal visual function by enabling light to precisely focus on the retina. The mean axial length of the adult human eye is 23.5 mm, but the molecular mechanisms regulating ocular axial length remain poorly understood. Underdevelopment can lead to microphthalmia (defined as a small eye with an axial length of less than 19 mm at 1 year of age or less than 21 mm in adulthood) within the first trimester of pregnancy. However, continued overgrowth can lead to axial high myopia (an enl...
Source: Annual Review of Genomics and Human Genetics - August 25, 2023 Category: Genetics & Stem Cells Authors: Daniel Jackson Mariya Moosajee Source Type: research

Sickle Cell Disease: From Genetics to Curative Approaches
Annu Rev Genomics Hum Genet. 2023 Aug 25;24:255-275. doi: 10.1146/annurev-genom-120122-081037.ABSTRACTSickle cell disease (SCD) is a monogenic blood disease caused by a point mutation in the gene coding for β-globin. The abnormal hemoglobin [sickle hemoglobin (HbS)] polymerizes under low-oxygen conditions and causes red blood cells to sickle. The clinical presentation varies from very severe (with acute pain, chronic pain, and early mortality) to normal (few complications and a normal life span). The variability of SCD might be due (in part) to various genetic modulators. First, we review the main genetic factors, polymor...
Source: Annual Review of Genomics and Human Genetics - August 25, 2023 Category: Genetics & Stem Cells Authors: Giulia Hardouin Elisa Magrin Alice Corsia Marina Cavazzana Annarita Miccio Michaela Semeraro Source Type: research