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Advances in Development: Focus on Rare Congenital Diseases
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Advances in Development: Focus on Rare Congenital Diseases

A special issue of Journal of Developmental Biology (ISSN 2221-3759).

Deadline for manuscript submissions: closed (15 December 2021) | Viewed by 36935

Special Issue Editors

Prof. Dr. Julia Thom Oxford

E-Mail Website
Guest Editor
Department of Biological Sciences, Boise State University, Boise, ID 83725, USA
Interests: rare diseases; zebrafish development; vertebrate skeletal development; protein structure-function; cardiovascular extracellular matrix; cancer progression; extracellular matrix; minor fibrillar collagens
Special Issues, Collections and Topics in MDPI journals
Dr. Makenna Hardy

E-Mail Website
Guest Editor
Department of Biological Sciences, Boise State University, Boise, ID 83725, USA
Interests: zebrafish development; minor fibrillar collagens; extracellular matrix; inner ear development; inner ear structure and function

Special Issue Information

Dear Colleagues,

This Special Issue on “Advances in Development: Focus on Rare Congenital Diseases” will deal with genetic, molecular, cellular, and physiological aspects of rare congenital diseases.

While each rare disease, by definition, impacts only a few individuals, when considered together, rare diseases impact millions of individuals throughout the world. Dissemination of research results and reviews of current literature is critical to moving the field forward, improving patient care, and informing parents and family members. Topics such as molecular mechanisms of rare congenital diseases, molecular structure, and function of gene products implicated in rare diseases, cellular mechanisms, tissue, and organ level physiology of rare congenital diseases are included.

A common thread uniting the topics is the comparison between normal development and the pathophysiology experienced in rare congenital diseases, linking genetic changes to protein structure and function, cell physiology, symptoms, and patient care. Providing new knowledge will lead us to improved diagnostics, preventions to adverse disease symptoms, and therapeutic strategies for treatment to improve patient quality of life. Review or Research articles are all welcomed.

Prof. Dr. Julia Thom Oxford
Dr. Makenna Hardy
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Journal of Developmental Biology is an international peer-reviewed open access quarterly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 1800 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • Rare Congenital Diseases
  • Development
  • rare diseases
  • zebrafish development
  • vertebrate skeletal development
  • protein structure-function
  • cardiovascular extracellular matrix
  • cancer progression
  • extracellular matrix
  • minor fibrillar collagens
  • molecular mechanisms
  • gene

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Published Papers (6 papers)

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Research

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16 pages, 2896 KiB  
Article
Col11a1a Expression Is Required for Zebrafish Development
by Makenna J. Hardy, Jonathon C. Reeck, Ming Fang, Jason S. Adams and Julia Thom Oxford
J. Dev. Biol. 2020, 8(3), 16; https://doi.org/10.3390/jdb8030016 - 28 Aug 2020
Cited by 3 | Viewed by 3750
Abstract
The autosomal dominant chondrodystrophies, the Stickler type 2 and Marshall syndromes, are characterized by facial abnormalities, vision deficits, hearing loss, and articular joint issues resulting from mutations in COL11A1. Zebrafish carry two copies of the Col11a1 gene, designated Col11a1a and Col11a1b. [...] Read more.
The autosomal dominant chondrodystrophies, the Stickler type 2 and Marshall syndromes, are characterized by facial abnormalities, vision deficits, hearing loss, and articular joint issues resulting from mutations in COL11A1. Zebrafish carry two copies of the Col11a1 gene, designated Col11a1a and Col11a1b. Col11a1a is located on zebrafish chromosome 24 and Col11a1b is located on zebrafish chromosome 2. Expression patterns are distinct for Col11a1a and Col11a1b and Col11a1a is most similar to COL11A1 that is responsible for human autosomal chondrodystrophies and the gene responsible for changes in the chondrodystrophic mouse model cho/cho. We investigated the function of Col11a1a in craniofacial and axial skeletal development in zebrafish using a knockdown approach. Knockdown revealed abnormalities in Meckel’s cartilage, the otoliths, and overall body length. Similar phenotypes were observed using a CRISPR/Cas9 gene-editing approach, although the CRISPR/Cas9 effect was more severe compared to the transient effect of the antisense morpholino oligonucleotide treatment. The results of this study provide evidence that the zebrafish gene for Col11a1a is required for normal development and has similar functions to the mammalian COL11A1 gene. Due to its transparency, external fertilization, the Col11a1a knockdown, and knockout zebrafish model systems can, therefore, contribute to filling the gap in knowledge about early events during vertebrate skeletal development that are not as tenable in mammalian model systems and help us understand Col11a1-related early developmental events. Full article
(This article belongs to the Special Issue Advances in Development: Focus on Rare Congenital Diseases)
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Review

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17 pages, 354 KiB  
Review
Spina Bifida: A Review of the Genetics, Pathophysiology and Emerging Cellular Therapies
by Abd-Elrahman Said Hassan, Yimeng Lina Du, Su Yeon Lee, Aijun Wang and Diana Lee Farmer
J. Dev. Biol. 2022, 10(2), 22; https://doi.org/10.3390/jdb10020022 - 6 Jun 2022
Cited by 17 | Viewed by 13689
Abstract
Spina bifida is the most common congenital defect of the central nervous system which can portend lifelong disability to those afflicted. While the complete underpinnings of this disease are yet to be fully understood, there have been great advances in the genetic and [...] Read more.
Spina bifida is the most common congenital defect of the central nervous system which can portend lifelong disability to those afflicted. While the complete underpinnings of this disease are yet to be fully understood, there have been great advances in the genetic and molecular underpinnings of this disease. Moreover, the treatment for spina bifida has made great advancements, from surgical closure of the defect after birth to the now state-of-the-art intrauterine repair. This review will touch upon the genetics, embryology, and pathophysiology and conclude with a discussion on current therapy, as well as the first FDA-approved clinical trial utilizing stem cells as treatment for spina bifida. Full article
(This article belongs to the Special Issue Advances in Development: Focus on Rare Congenital Diseases)
26 pages, 2251 KiB  
Review
The Hypothesis of the Prolonged Cell Cycle in Turner Syndrome
by Francisco Álvarez-Nava and Marisol Soto-Quintana
J. Dev. Biol. 2022, 10(2), 16; https://doi.org/10.3390/jdb10020016 - 11 May 2022
Cited by 3 | Viewed by 4915
Abstract
Turner syndrome (TS) is a chromosomal disorder that is caused by a missing or structurally abnormal second sex chromosome. Subjects with TS are at an increased risk of developing intrauterine growth retardation, low birth weight, short stature, congenital heart diseases, infertility, obesity, dyslipidemia, [...] Read more.
Turner syndrome (TS) is a chromosomal disorder that is caused by a missing or structurally abnormal second sex chromosome. Subjects with TS are at an increased risk of developing intrauterine growth retardation, low birth weight, short stature, congenital heart diseases, infertility, obesity, dyslipidemia, hypertension, insulin resistance, type 2 diabetes mellitus, metabolic syndrome, and cardiovascular diseases (stroke and myocardial infarction). The underlying pathogenetic mechanism of TS is unknown. The assumption that X chromosome-linked gene haploinsufficiency is associated with the TS phenotype is questioned since such genes have not been identified. Thus, other pathogenic mechanisms have been suggested to explain this phenotype. Morphogenesis encompasses a series of events that includes cell division, the production of migratory precursors and their progeny, differentiation, programmed cell death, and integration into organs and systems. The precise control of the growth and differentiation of cells is essential for normal development. The cell cycle frequency and the number of proliferating cells are essential in cell growth. 45,X cells have a failure to proliferate at a normal rate, leading to a decreased cell number in a given tissue during organogenesis. A convergence of data indicates an association between a prolonged cell cycle and the phenotypical features in Turner syndrome. This review aims to examine old and new findings concerning the relationship between a prolonged cell cycle and TS phenotype. These studies reveal a diversity of phenotypic features in TS that could be explained by reduced cell proliferation. The implications of this hypothesis for our understanding of the TS phenotype and its pathogenesis are discussed. It is not surprising that 45,X monosomy leads to cellular growth pathway dysregulation with profound deleterious effects on both embryonic and later stages of development. The prolonged cell cycle could represent the beginning of the pathogenesis of TS, leading to a series of phenotypic consequences in embryonic/fetal, neonatal, pediatric, adolescence, and adulthood life. Full article
(This article belongs to the Special Issue Advances in Development: Focus on Rare Congenital Diseases)
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13 pages, 984 KiB  
Review
Genetic and Molecular Determinants of Lymphatic Malformations: Potential Targets for Therapy
by Su Yeon Lee, Emma Grace Loll, Abd-Elrahman Said Hassan, Mingyu Cheng, Aijun Wang and Diana Lee Farmer
J. Dev. Biol. 2022, 10(1), 11; https://doi.org/10.3390/jdb10010011 - 8 Feb 2022
Cited by 11 | Viewed by 4223
Abstract
Lymphatic malformations are fluid-filled congenital defects of lymphatic channels occurring in 1 in 6000 to 16,000 patients. There are various types, and they often exist in conjunction with other congenital anomalies and vascular malformations. Great strides have been made in understanding these malformations [...] Read more.
Lymphatic malformations are fluid-filled congenital defects of lymphatic channels occurring in 1 in 6000 to 16,000 patients. There are various types, and they often exist in conjunction with other congenital anomalies and vascular malformations. Great strides have been made in understanding these malformations in recent years. This review summarize known molecular and embryological precursors for lymphangiogenesis. Gene mutations and dysregulations implicated in pathogenesis of lymphatic malformations are discussed. Finally, we touch on current and developing therapies with special attention on targeted biotherapeutics. Full article
(This article belongs to the Special Issue Advances in Development: Focus on Rare Congenital Diseases)
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14 pages, 2561 KiB  
Review
Altered Cogs of the Clock: Insights into the Embryonic Etiology of Spondylocostal Dysostosis
by Ana Nóbrega, Ana C. Maia-Fernandes and Raquel P. Andrade
J. Dev. Biol. 2021, 9(1), 5; https://doi.org/10.3390/jdb9010005 - 29 Jan 2021
Cited by 8 | Viewed by 4766
Abstract
Spondylocostal dysostosis (SCDO) is a rare heritable congenital condition, characterized by multiple severe malformations of the vertebrae and ribs. Great advances were made in the last decades at the clinical level, by identifying the genetic mutations underlying the different forms of the disease. [...] Read more.
Spondylocostal dysostosis (SCDO) is a rare heritable congenital condition, characterized by multiple severe malformations of the vertebrae and ribs. Great advances were made in the last decades at the clinical level, by identifying the genetic mutations underlying the different forms of the disease. These were matched by extraordinary findings in the Developmental Biology field, which elucidated the cellular and molecular mechanisms involved in embryo body segmentation into the precursors of the axial skeleton. Of particular relevance was the discovery of the somitogenesis molecular clock that controls the progression of somite boundary formation over time. An overview of these concepts is presented, including the evidence obtained from animal models on the embryonic origins of the mutant-dependent disease. Evidence of an environmental contribution to the severity of the disease is discussed. Finally, a brief reference is made to emerging in vitro models of human somitogenesis which are being employed to model the molecular and cellular events occurring in SCDO. These represent great promise for understanding this and other human diseases and for the development of more efficient therapeutic approaches. Full article
(This article belongs to the Special Issue Advances in Development: Focus on Rare Congenital Diseases)
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15 pages, 2301 KiB  
Review
Molecular and Cellular Pathogenesis of Ellis-van Creveld Syndrome: Lessons from Targeted and Natural Mutations in Animal Models
by Ke’ale W. Louie, Yuji Mishina and Honghao Zhang
J. Dev. Biol. 2020, 8(4), 25; https://doi.org/10.3390/jdb8040025 - 9 Oct 2020
Cited by 16 | Viewed by 4457
Abstract
Ellis-van Creveld syndrome (EVC; MIM ID #225500) is a rare congenital disease with an occurrence of 1 in 60,000. It is characterized by remarkable skeletal dysplasia, such as short limbs, ribs and polydactyly, and orofacial anomalies. With two of three patients first noted [...] Read more.
Ellis-van Creveld syndrome (EVC; MIM ID #225500) is a rare congenital disease with an occurrence of 1 in 60,000. It is characterized by remarkable skeletal dysplasia, such as short limbs, ribs and polydactyly, and orofacial anomalies. With two of three patients first noted as being offspring of consanguineous marriage, this autosomal recessive disease results from mutations in one of two causative genes: EVC or EVC2/LIMBIN. The recent identification and manipulation of genetic homologs in animals has deepened our understanding beyond human case studies and provided critical insight into disease pathogenesis. This review highlights the utility of animal-based studies of EVC by summarizing: (1) molecular biology of EVC and EVC2/LIMBIN, (2) human disease signs, (3) dysplastic limb development, (4) craniofacial anomalies, (5) tooth anomalies, (6) tracheal cartilage abnormalities, and (7) EVC-like disorders in non-human species. Full article
(This article belongs to the Special Issue Advances in Development: Focus on Rare Congenital Diseases)
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