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Thus, conserved downstream effectors of GRNs function in specialized cells of the eye, and the effects of master regulators are properly parsed. There is a wide-ranging literature focused on Pax6 function in eye development Gehring, ; Gehring and Ikeo, ; and references therein , and it is clear that the Drosophila genetic system has provided a particularly informative model in which to study the development of visual systems in compound and camera eyes alike Pennisi, ; Pichaud and Desplan, Several standard forward genetic screens have been performed to identify genes required for eye development e.

Janody et al. Karim et al. The heart, like the eye, is ancient in origin, with its development controlled by an evolutionarily conserved GRN. In Drosophila , the heart is known as the dorsal vessel and it functions as a linear peristaltic pump. Each of the core GRN elements required to enact the cardiac genetic program in humans is also expressed in the Drosophila heart.

MEF2 , which is conserved from yeast to humans, encodes the most ancient myogenic transcription factor on record Potthoff and Olson, It is expressed in the cardiac structures of flies and humans, as well as in all organisms lying between them in the evolutionary spectrum Black and Olson, In humans and flies, mutations in any component of the heart GRN lead to congenital heart disease, the most common birth defect in humans Global Burden of Disease Study Collaborators, Notably, mutations of the human NK2 family member NKX2 homeobox 5 NKX are associated with cardiac conduction abnormalities, as well as ventricular and atrial septal defects Elliott et al.

The mechanisms by which the loss of GRN transcription factors TBX5 and TBX1 can lead to inborn errors of development Holt Oram syndrome and cardiac outflow tract abnormalities, respectively , has been particularly well studied in model systems, including Drosophila e. Fink et al. A lack of genetic redundancy in the fly has been particularly important for advancing our understanding of heart development because it allows phenotypes to be seen in single mutants that would not otherwise be detectable in higher eukaryotes, which have greater redundancy Olson, Several moderate- to high-throughput tools have been developed that allow investigators to probe models of heart disease in the fly Ugur et al.

First, we are equipped to view the Drosophila larval and pupal beating hearts using a standard dissection microscope for analysis Cooper et al. Second, a more sensitive, but lower throughput, methodology to assess heart function in fixed samples is optical coherence tomography OCT , a 3D subsurface imaging technique Bradu et al. Finally, relying on genetic methods of analysis, we can employ heart-specific GAL4 drivers like tinman:GAL4 to express GFP in the hearts of mutants, and conventional epifluorescence or confocal microscopy as a backup for real-time observation of heart function Lo and Frasch, ; Qian et al.

Insights into the genetic control of lung epithelial outgrowth also known as branching morphogenesis have their foundation in traditional loss-of-function studies of Drosophila Baer et al. The Drosophila tracheal system comprises a network of tubes that lead from openings on the surface of the animal and subdivide into smaller and smaller tubes that deliver oxygen to internal tissues Behr, The primary branches of the tracheal system are set down during embryonic development, deploying genetic programs similar to those functioning in human lung development Liu et al.

The simple structure of the Drosophila respiratory system makes it particularly appealing as a prototypical model for studying branching morphogenesis. Respiratory development begins with the formation of small bud-like sacs, a process dependent on two genes [ trachealess trh and tango tgo ] that each encode a basic helix-loop-helix bHLH protein for which vertebrate counterparts remain unidentified.

Drosophila bnl mutants have airways that are wider and shorter than normal Jarecki et al. At the end of Drosophila embryonic development, specialized cells within the tracheal system, called terminal cells, undergo dramatic morphogenetic changes by extending numerous thinly branched cytoplasmic projections Ghabrial et al. Terminal cell branching is exquisitely sensitive to oxygen physiology, both in target tissues and in the terminal cells themselves Jarecki et al. In addition, terminal cell branching is readily quantifiable.

Assessment of the effects of genetic mutations on terminal cell development has revealed terminal-cell-autonomous and non-autonomous requirements for oxygen Ghabrial et al. Drosophila models have also been used to test for genes associated with congenital lung disease such as asthma e. Tl ; Roeder et al. Developmental pathways are deeply conserved, indeed to the extent that they are considered universal Halder et al. Recent improvements to and wide applicability of reverse genetic strategies to systematically target gene inactivation Hardy et al.

The Human Genome Project was a landmark endeavor, undertaken with a clear imperative to galvanize the field of medical genetics by supporting the diagnosis and management of hereditary disorders. With the sequence of the human genome now available, we must now consider how to link DNA sequences to the emergent properties of that genome.

However, although genome annotation challenges have been embraced and automated, we have fallen behind in our ability to analyze at the functional level the tremendous amount of available genomic data. This is the genotype-to-phenotype bottleneck. Put another way, the speed of discovery of rare disease-causing genes has outpaced our ability to understand mechanistically how mutant alleles lead to clinical symptoms and disease. Addressing this challenge requires the development, characterization and sharing of new animal models of human disease.

The OMIM Online Mendelian Inheritance in Man database is a valuable resource that can point the translational scientist to rare congenital disease candidate genes that have likely orthologs in Drosophila , with the expectation that these orthologs can be interrogated in insect models, even without prior assignment to a biological pathway.

Centre for Human Genetics

As a starting point, Hu and colleagues used MeSH Medical Subject Heading terms to identify Drosophila genes that share at least one functional annotation with a human ortholog associated with a disease. Their analysis confirms our expectations that genes conserved functionally at the biochemical level are frequently also conserved at the biological level, and illustrates how the identification of orthologs can be an important first step to using a Drosophila model or indeed any animal model to study human congenital disease Fig.

Conserved genotype-phenotype relationships in flies and humans are vital to the success of reverse genetic strategies, allowing us to make accurate predictions about loss-of-function phenotypes in Drosophila for orthologs of human disease candidate genes, the obligatory first step in human disease modeling.

The Drosophila pipeline for modeling human disease. Candidate disease-causing mutations are identified using variant sequence data obtained from patient sources, including whole-genome and exome sequence datasets. Our ability to manipulate the fly genome has progressed in line with advances in discovering disease-causing mutations.

These technological developments have allowed us to interrogate human disease candidate gene functions in Drosophila using reverse genetic approaches. This combinatorial approach makes it possible to disrupt gene activity at a level of resolution that was difficult to achieve when only classical genetic loss-of-function methods were available.

Although the VDRC collection is larger than the TRiP collection, fewer of the RNAi lines that it contains are the product of targeted integration, and evidence suggests that validated phenotypes are more readily obtained with the use of TRiP lines Green et al. Taken together, though, these resources ensure a human congenital disease validation pipeline in Drosophila with some examples briefly described here that is less costly and less time consuming than reverse genetic validation strategies in vertebrate model systems Bell et al.

The Sex-Determination Pathway

In these cases, a vertebrate model system might be better suited for analysis. Resources for generating Drosophila models of human congenital disease. Human and Drosophila sequence databases, in combination with emerging compilations of phenotype annotations in both species, are the large 21st century datasets that serve as a starting point for reverse genetic strategies to generate Drosophila models of human congenital disorders, some of which are described below. Hypoparathyroidism-retardation-dysmorphism HRD syndrome, which is also diagnosed as Sanjad-Sakati or Richardson-Kirk syndrome, is a rare, autosomal recessive inherited condition characterized by congenital hypothyroidism, mental retardation, and growth failure associated with facial dysmorphia Abdel-Al et al.

HRD results from mutations in the TBCE tubulin-specific chaperone E gene, which encodes a protein that is required for the proper folding of alpha-tubulin subunits and thus for the formation of alpha-beta-tubulin heterodimers Parvari et al. Drosophila geneticists seeking to generate a fly model of HRD identified by bioinformatics analysis one high-scoring Drosophila TBCE ortholog, tbce , for which they generated RNAi targeting constructs, as well as classic amorphic alleles Jin et al.


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Drosophila tbce mutants exhibit a range of phenotypes, including abnormalities in microtubule distribution that are reminiscent of human HRD phenotypes and which are shared by individuals with related conditions, including fragile X syndrome FXS and hereditary spastic paraplegia Sherwood et al. The Drosophila model has proven especially useful for studying the molecular pathogenesis of HRD: genetic tests of epistasis have led to the identification of spastin itself linked to hereditary spastic paraplegia as a TBCE partner in microtubule regulation Jin et al.

RNAi silencing and targeted gene-disruption approaches in Drosophila are also being used to model CHARGE syndrome, a common autosomal dominant disorder , live births associated with wide-ranging congenital dysmorphologies, including malformations of the nasal cavity, heart, inner ear and retina Blake et al. The Drosophila model recapitulates several important aspects of the human disease Ghosh et al. In these mutants, loss of chromatin organization leads to the dysregulation of homeotic gene targets and results, not surprisingly, in wide-ranging developmental deficiencies. Treacher Collins syndrome has been successfully modeled in flies through the disruption of Nopp , which encodes a kDa nucleolar and Cajal body phosphoprotein that is thought to be a ribosome assembly factor, although its specific function remains unknown Waggener and DiMario, Affected individuals exhibit severe mental retardation, short stature and characteristic facial dysmorphia, in addition to immune dysfunction Frydman et al.

Drosophila geneticists, using RNAi-based knockdown strategies, discovered that flies exhibit Notch-like phenotypes when they lack Gfr and that Gfr is responsible for Notch O -fucosylation Ishikawa et al. Given the previous association of the Notch pathway with Alagille syndrome, another congenital disorder associated with mental retardation, slow growth and facial dysmorphism see earlier discussion of the Notch pathway , Ishikawa and colleagues interpreted their findings to mean that defective Notch signaling is responsible for the developmental defects associated with both CDG and Alagille syndrome.

This study highlights how shared loss-of-function phenotypes generated by reverse genetic strategies can identify functional links between proteins, thereby advancing our understanding of human disease etiology and pointing us to improved diagnostic methods. Townes-Brocks' syndrome TBS is a rare autosomal dominant inherited malformation syndrome that is characterized by anal, renal, limb and ear abnormalities, and is uniquely associated with mutations in the SALL1 gene, which encodes a transcription factor called Spalt-like 1 [Spalt major Salm in flies].

Flies null for salm , a target of the Dpp and Hh signaling pathways, suffer embryonic lethality Jurgens, However, an analysis of the tissue-specific functions of salm and spalt-related salr in mosaic flies that carry both wild-type and mutant cells revealed that these flies manifest antennae and genitalia defects.

In addition, electrophysiological assays confirm that these flies are also deaf Dong et al. Thus, auditory and genital abnormalities in mutant flies are reminiscent of those seen in individuals with TBS, and our comprehensive genetic and molecular understanding of Sal regulatory circuits in flies can inform our understanding of the biological abnormalities associated with TBS in humans.


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In this regard, most disease-causing TBS alleles produce a truncated protein that, although able to correctly interact with other Spalt proteins there are four in humans , is unable to function properly de Celis and Barrio, Most examples of the technique's utility for disease modeling in the fly comes from the analyses of neurodegenerative conditions, perhaps because these disorders share a common pathological denominator, protein misfolding. The subsequent formation of aberrant protein aggregates with toxic conformers selectively damage neuronal populations.

In the case of Alexander disease, the autosomal dominantly inherited leukodystrophy is caused by mutations of GFAP glial fibrillary acidic protein for which there is no ortholog in flies. Nonetheless, glial expression of human mutant GFAP in transgenic flies induces the formation of Rosenthal fibers inclusions that serve as markers of the human condition and promotes glial-mediated neurodegeneration Wang et al. Humanized Drosophila strains are used most widely to model neurological disorders Bonini and Fortini, ; Jaiswal et al.

Noonan syndrome is inherited as an autosomal dominant disorder, but, for many affected individuals, there is no family history and cases are thought to result from de novo mutation. Recognition that LEOPARD syndrome mutations, despite their reduced src homology 2 SH2 phosphatase activity, have gain-of-function developmental defects provided the first satisfying rationale for how PTPN11 mutations with opposite effects on phosphatase activity might produce analogous phenotypes. Whereas ubiquitous expression of the two strongest alleles leads to embryonic lethality, expression of the Noonan-associated mutation ND causes the formation of ectopic veins similar to those seen in the LEOPARD model.

The value of humanized allele models such as these should not be underestimated. In recent years, Drosophila has gained traction as a repurposed tool to investigate congenital disorders of metabolism, such as diabetes Jaiswal et al. The Drosophila embryo has been mined extensively, through classic genetic loss-of-function approaches, to advance our understanding of the fundamentals of development, including pattern formation, cell fate determination, morphogenesis and organogenesis.

Indeed, as discussed in this Review, elegant combinations of genetics, molecular biology and biochemistry in the Drosophila embryo have been used to identify and characterize virtually every important signal transduction pathway in eukaryotes, from flies to humans. Now, when we identify Drosophila genes that have human orthologs suspected of having developmental roles, their specific functions can be assessed in high-throughput, embryonic-lethal-stage studies in Drosophila.

Some consider Drosophila to be multiple models rolled into one, with each of its life stages embryo, larva, pupa and adult offering unique opportunities to model human disease and development: the embryo is useful for the study of development; Drosophila larvae are useful for studying physiological processes and some simple behaviors e.

Durisko et al. Overall, the fly offers substantial opportunities for modeling human disease well beyond the congenital disorders we discuss here. Of note too is our recognition that the fly response to drugs is oftentimes similar to that in mammals Andretic et al. One of the most important advances in model-systems drug discovery was centered on an analysis of small-molecule rescue of the fragile X phenotype in the Drosophila model of FXS Chang et al. FXS, an X-linked dominant neurodevelopmental syndrome characterized by moderate to severe mental retardation, macroorchidism and distinctive facial anomalies, is caused by loss of the protein-synthesis inhibitor FMR1 fragile X mental retardation.

FMR1 mutation results from expansion of its CGG triplet, of which there are five to 40 repeats in wild-type alleles and 55 to repeats in mutant alleles, and consequent silencing of the FMR1 gene Santoro et al. Both the neuronal and behavioral aspects of human FXS are recapitulated in flies, either through the targeted inactivation of the Drosophila Fmr gene or by overexpression of mutant alleles with various repeat lengths Wan et al.

Importantly, this fly model has been used successfully for drug discovery, with mGluR a presumed FMR1 target antagonists rescuing behavioral phenotypes in compound screens Chang et al. The fruit fly, with its genetic tractability and conserved genome, offers attractive and proven opportunities for gene validation and modeling of human developmental abnormalities, leading in the long term to 21st century precision medicine encompassing diagnostics and therapies.

The many success stories highlighted in this Review provide compelling justification for expansion of methodologies in flies as well as extension whenever possible to other models, including zebrafish and mice to assess function of the candidate disease genes that are frequently identified in neonate whole-genome sequencing studies Petrikin et al. The models that we discuss also highlight deep conservation in flies and humans that extends from genome sequence to biological process, providing a compelling argument for more frequent use of fly models in the drug discovery process.

Although there are clear indications of success based on mechanistic insight for FOP Kaplan et al. The authors thank Diana Lim for figure preparation, and Molly Jud and Sandy Kazuko for helpful comments on the manuscript. This article is part of a subject collection on Spotlight on Drosophila : Translational Impact. Competing interests. Europe PMC requires Javascript to function effectively.

Recent Activity. The snippet could not be located in the article text. This may be because the snippet appears in a figure legend, contains special characters or spans different sections of the article. Dis Model Mech. PMID: Matthew J. Published by The Company of Biologists Ltd. This article has been cited by other articles in PMC. ABSTRACT Fly models that faithfully recapitulate various aspects of human disease and human health-related biology are being used for research into disease diagnosis and prevention.

Box 1.

Open in a separate window. Box 2. Genetic methodologies. Forward genetics — defining pathways and associated dysmorphologies Forward genetic analysis see Fig. Pathways associated with human congenital disorders. The Notch signaling pathway Several human congenital disorders are associated with mutation of the Notch pathway. Forward genetics — gleaning insights into tissue morphogenesis In accordance with their developmental roles in Drosophila , mutations in several human genes cause predictable, analogous defects.

Eye development Although long thought to exemplify convergent evolution, the Drosophila compound and mammalian camera eyes have actually diverged in evolution Gehring, Heart development The heart, like the eye, is ancient in origin, with its development controlled by an evolutionarily conserved GRN. Lung development and branching morphogenesis Insights into the genetic control of lung epithelial outgrowth also known as branching morphogenesis have their foundation in traditional loss-of-function studies of Drosophila Baer et al.

Reverse genetics — genotype-to-phenotype considerations Developmental pathways are deeply conserved, indeed to the extent that they are considered universal Halder et al. Hypoparathyroidism-retardation-dysmorphism syndrome Hypoparathyroidism-retardation-dysmorphism HRD syndrome, which is also diagnosed as Sanjad-Sakati or Richardson-Kirk syndrome, is a rare, autosomal recessive inherited condition characterized by congenital hypothyroidism, mental retardation, and growth failure associated with facial dysmorphia Abdel-Al et al. CHARGE syndrome RNAi silencing and targeted gene-disruption approaches in Drosophila are also being used to model CHARGE syndrome, a common autosomal dominant disorder , live births associated with wide-ranging congenital dysmorphologies, including malformations of the nasal cavity, heart, inner ear and retina Blake et al.

Conclusions The Drosophila embryo has been mined extensively, through classic genetic loss-of-function approaches, to advance our understanding of the fundamentals of development, including pattern formation, cell fate determination, morphogenesis and organogenesis. Acknowledgements The authors thank Diana Lim for figure preparation, and Molly Jud and Sandy Kazuko for helpful comments on the manuscript.

Principles Of Differentiation And Morphogenesis

Footnotes This article is part of a subject collection on Spotlight on Drosophila : Translational Impact. Competing interests The authors declare no competing or financial interests. Funding A. References Abdel-Al Y. Kenny-Caffey syndrome: case report and literature review. The genome sequence of Drosophila melanogaster. Science , Tube or not tube: remodeling epithelial tissues by branching morphogenesis. Cell 4 , Drosophila CBP is required for dorsal-dependent twist gene expression.

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Biophotonics 2 , Targeted gene expression as a means of altering cell fates and generating dominant phenotypes. Transducing the Dpp morphogen gradient in the wing of Drosophila: regulation of Dpp targets by brinker. Cell 96 , A screen for modifiers of hedgehog signaling in Drosophila melanogaster identifies swm and mts.

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Signal transduction and biological functions of bone morphogenetic proteins. Homophila: human disease gene cognates in Drosophila. Nucleic Acids Res. Understanding velocardiofacial syndrome: how recent discoveries can help you improve your patient outcomes. Head Neck Surg. The hidden toll of dying and disabled children. Monitoring heart function in larval Drosophila melanogaster for physiological studies. RNAi knockdown of Nopp induces minute-like phenotypes in Drosophila. Cell 18 , Regulation and function of Spalt proteins during animal development. Conservation of the Notch signalling pathway in mammalian neurogenesis.

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New York: Liss. Durisko Z. Dynamics of social behavior in fruit fly larvae. The interplay of genetic and environmental factors in craniofacial morphogenesis: holoprosencephaly and the role of cholesterol. Cardiac homeobox gene NKX mutations and congenital heart disease: associations with atrial septal defect and hypoplastic left heart syndrome.

A new method for detection and quantification of heartbeat parameters in Drosophila, zebrafish, and embryonic mouse hearts. Biotechniques 46 , Dorsal-ventral patterning of the Drosophila embryo depends on a putative negative growth factor encoded by the short gastrulation gene. Rambam-Hasharon syndrome of psychomotor retardation, short stature, defective neutrophil motility, and Bombay phenotype.

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Multiple nevoid basal-cell epithelioma, jaw cysts and bifid rib. A syndrome.

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Excessive transforming growth factor-beta signaling is a common mechanism in osteogenesis imperfecta. Methods Mol. Tissue-specific roles of Fgfr2 in development of the external genitalia. A Drosophila RNAi collection is subject to dominant phenotypic effects. Methods 11 , Notch and the awesome power of genetics. Notch signaling and inherited disease syndromes. A A , Construction of transgenic Drosophila by using the site-specific integrase from phage phiC Cell 92 , Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome.

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Child 86 , The Drosophila patched gene encodes a putative membrane protein required for segmental patterning. Cell 59 , Child Health 50 , An integrative approach to ortholog prediction for disease-focused and other functional studies. BMC Bioinformatics 12 , The COP9 signalosome converts temporal hormone signaling to spatial restriction on neural competence. The patched gene in development and cancer.

Notch deficiency implicated in the pathogenesis of congenital disorder of glycosylation IIc. Probing mechanisms that underlie human neurodegenerative diseases in Drosophila. Jr, Mayer D. Nucleus 4 , A mosaic genetic screen reveals distinct roles for trithorax and polycomb group genes in Drosophila eye development. Oxygen regulation of airway branching in Drosophila is mediated by branchless FGF. Cell 99 , Drosophila melanogaster as a model organism of brain diseases. Head and tail development of the Drosophila embryo involves spalt , a novel homeotic gene.

EMBO J. Drosophila Tubulin-specific chaperone E functions at neuromuscular synapses and is required for microtubule network formation. Jr et al. Human homolog of patched, a candidate gene for the basal cell nevus syndrome. Consequences of JAG1 mutations. Start on. Show related SlideShares at end. WordPress Shortcode. Published in: Lifestyle. Full Name Comment goes here. Are you sure you want to Yes No. Be the first to like this. No Downloads. Views Total views. Actions Shares. Embeds 0 No embeds. No notes for slide.

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