Molecular Regulation of Limb Growth

Lyons, Karen M.; Ezaki, Marybeth

doi:10.2106/jbjs.i.00240

Cited by 13 publications

(3 citation statements)

References 25 publications

(31 reference statements)

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“…The reasoning is based on the general developmental processes that are evolutionarly conserved among vertebrates. For instance, it is known that the development of tetrapod limbs follows a common regulatory pattern (Shubin et al., ) and the disruption of signaling pathways through genetic and epigenetic effects leads to abnormal limbs (Vogt and Duboule, ; Shum et al., ; Al‐Qattan et al., ; Huang and Hales, ; Lyons and Ezaki, ; Zuniga et al., ).…”

Section: Macroevolutionary and Paleontological Work As Case Studiesmentioning

confidence: 99%

Dinosaurs, Chameleons, Humans, and Evo‐Devo Path: Linking Étienne Geoffroy's Teratology, Waddington's Homeorhesis, Alberch's Logic of “Monsters,” and Goldschmidt Hopeful “Monsters”

2016

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Since the rise of evo-devo (evolutionary developmental biology) in the 1980s, few authors have attempted to combine the increasing knowledge obtained from the study of model organisms and human medicine with data from comparative anatomy and evolutionary biology in order to investigate the links between development, pathology, and macroevolution. Fortunately, this situation is slowly changing, with a renewed interest in evolutionary developmental pathology (evo-devo-path) in the past decades, as evidenced by the idea to publish this special, and very timely, issue on "Developmental Evolution in Biomedical Research." As all of us have recently been involved, independently, in works related in some way or another with evolution and developmental anomalies, we decided to join our different perspectives and backgrounds in the present contribution for this special issue. Specifically, we provide a brief historical account on the study of the links between evolution, development, and pathologies, followed by a review of the recent work done by each of us, and then by a general discussion on the broader developmental and macroevolutionary implications of our studies and works recently done by other authors. Our primary aims are to highlight the strength of studying developmental anomalies within an evolutionary framework to understand morphological diversity and disease by connecting the recent work done by us and others with the research done and broader ideas proposed by authors such as Étienne Geoffroy Saint-Hilaire, Waddington, Goldschmidt, Gould, and Per Alberch, among many others to pave the way for further and much needed work regarding abnormal development and macroevolution.

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Section: Macroevolutionary and Paleontological Work As Case Studiesmentioning

confidence: 99%

Dinosaurs, Chameleons, Humans, and Evo‐Devo Path: Linking Étienne Geoffroy's Teratology, Waddington's Homeorhesis, Alberch's Logic of “Monsters,” and Goldschmidt Hopeful “Monsters”

2016

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“…RRDs arise from failure of longitudinal skeletal formation along the radial border of the developing limb bud [Lyons and Ezaki, 2009]. The distal tip of the limb bud contains the apical ectodermal ridge, which is responsible for the secretion of fibroblast growth factors.…”

Section: Introductionmentioning

confidence: 99%

Characteristics and associated anomalies in radial ray deficiencies in Finland—A population‐based study

Pakkasjärvi

Koskimies

Ritvanen

et al. 2013

American J of Med Genetics Pt A

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Upper-limb defects with deficiencies of the radial ray have varying etiologies, with a low proportion of true Mendelian disorders. We carried out a population-based study to elucidate the birth prevalence and clinical spectrum of radial ray deficiencies in Finland. We identified all births with radial ray deficiency reported to the Finnish Register of Congenital Malformations in 1993-2005. Altogether 138 cases were identified (123 live births), with a birth prevalence of 1.83 per 10,000 births and a live birth prevalence of 1.64 per 10,000 live births. The proportion of infant deaths was as high as 35%. The majority of the cases were associated with known syndromes or multiple anomalies; only 13% were true isolated radial ray deficiencies. The most common syndrome was trisomy 18, and the most common in multiple anomalies was VACTERL association. In 8.7% of cases an association between radial ray deficiency and heart anomaly was observed. The high proportion of cases with associated major anomalies indicates that radial ray deficiency can be regarded isolated only after thorough assessment of the various organ systems in an affected infant.

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“…Germ line PTEN mutations have been implicated that predispose to phenotypically different disorders with considerable overlaps like Cowden syndrome, Bannayan Riley Ruvalcaba syndrome, Proteus syndrome, and Proteus-like syndromes. [ 1 2 3 ]…”

Section: Introductionmentioning

confidence: 99%

Proteus syndrome: A rare cause of gigantic limb

Chakrabarti

Chattopadhyay

Majhi

et al. 2014

Indian Dermatol Online J

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A congenital disorder with variable manifestations, including partial gigantism of the hands and feet with hypertrophy of soles, nevi, hemihypertrophy, gynecomastia, macrocephaly and other skull abnormalities, and abdominal lipomatosis. The cause is unknown, although a genetic origin, generally of autosomal-dominant transmission, has been conjectured. Symptoms can be treated, but there is no known cure. We present the case of a young male with grotesque overgrowth of the right lower limb, splenomegaly and multiple nevi. Angiography revealed venous malformation within the limb. The findings are in conformity to the criteria for the Proteus syndrome.

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Molecular Regulation of Limb Growth

Cited by 13 publications

References 25 publications

Dinosaurs, Chameleons, Humans, and Evo‐Devo Path: Linking Étienne Geoffroy's Teratology, Waddington's Homeorhesis, Alberch's Logic of “Monsters,” and Goldschmidt Hopeful “Monsters”

Dinosaurs, Chameleons, Humans, and Evo‐Devo Path: Linking Étienne Geoffroy's Teratology, Waddington's Homeorhesis, Alberch's Logic of “Monsters,” and Goldschmidt Hopeful “Monsters”

Characteristics and associated anomalies in radial ray deficiencies in Finland—A population‐based study

Proteus syndrome: A rare cause of gigantic limb

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