scholarly journals Impaired embryonic motility in dusp27 mutants reveals a developmental defect in myofibril structure

2013 ◽  
Vol 7 (2) ◽  
pp. 289-298 ◽  
Author(s):  
K. Fero ◽  
S. A. Bergeron ◽  
E. J. Horstick ◽  
H. Codore ◽  
G. H. Li ◽  
...  
Keyword(s):  
Developmental Defect ◽  
Embryonic Motility

scholarly journals Identification of Six Loci in Which Mutations Partially Restore Peroxisome Biogenesis and/or Alleviate the Metabolic Defect of pex2 Mutants in Podospora

Genetics ◽  
2002 ◽  
Vol 161 (3) ◽  
pp. 1089-1099
Author(s):  
Gwenaël Ruprich-Robert ◽  
Véronique Berteaux-Lecellier ◽  
Denise Zickler ◽  
Arlette Panvier-Adoutte ◽  
Marguerite Picard
Keyword(s):  
Sole Carbon Source ◽  
Large Scale ◽  
Podospora Anserina ◽  
Developmental Defect ◽  
Dominant Allele ◽  
Peroxisome Biogenesis ◽  
Metabolic Defects ◽  
Metabolic Defect ◽  
Mutant Strains ◽  
Large Scale Screening

Abstract Peroxins (PEX) are proteins required for peroxisome biogenesis. Mutations in PEX genes cause lethal diseases in humans, metabolic defects in yeasts, and developmental disfunctions in plants and filamentous fungi. Here we describe the first large-scale screening for suppressors of a pex mutation. In Podospora anserina, pex2 mutants exhibit a metabolic defect [inability to grow on medium containing oleic acid (OA medium) as sole carbon source] and a developmental defect (inability to differentiate asci in homozygous crosses). Sixty-three mutations able to restore growth of pex2 mutants on OA medium have been analyzed. They fall in six loci (suo1 to suo6) and act as dominant, allele-nonspecific suppressors. Most suo mutations have pleiotropic effects in a pex2+ background: formation of unripe ascospores (all loci except suo5 and suo6), impaired growth on OA medium (all loci except suo4 and suo6), or sexual defects (suo4). Using immunofluorescence and GFP staining, we show that peroxisome biogenesis is partially restored along with a low level of ascus differentiation in pex2 mutant strains carrying either the suo5 or the suo6 mutations. The data are discussed with respect to β-oxidation of fatty acids, peroxisome biogenesis, and cell differentiation.

scholarly journals Muscle Changes in Lambs with Surgically Created Scoliosis Produced in Utero

1978 ◽  
Vol 5 (3) ◽  
pp. 283-287 ◽  
Author(s):  
G.M. Kent ◽  
W. Zingg ◽  
D. Armstrong
Keyword(s):  
Musculoskeletal Diseases ◽  
Fiber Type ◽  
Surgical Techniques ◽  
Spinal Curvature ◽  
Surgical Trauma ◽  
Developmental Defect ◽  
Type I ◽  
Type Ii ◽  
Muscle Changes ◽  
Type Ii Fibers

SUMMARY:Spinal curves may be produced in fetal lambs with three surgical techniques. These procedures vary from mere exposure of the costo-vertebral junction of three ribs through a paravertebral incision, to resection of the head and part of the adjacent shaft of three ribs. The fetal age varies from forty-nine to seventy-three days. The degree of curvature present at birth seems to increase in severity with decreasing fetal age at the time of surgery, but the type of surgical procedure does not appear to influence the severity of the curve, suggesting that the mechanical presence of the ribs does not prevent the development of scoliosis in these animals.Histological studies of the m. longissimus dorsi at the apices of the curves reveal two main types of abnormality in the muscle fibers. Both Type I and Type II fibers were significantly reduced in size in the biopsies taken from the side on which the surgery was performed, and there was marked alteration in the proportion of one fiber type to the other in most biopsies taken from both operated sides when compared with biopsies from unoperated twin animals.The fetal age and amount of surgical trauma appeared to play no role in the degree of muscle alteration, suggesting that even minimal surgical trauma to the paraspinal region at any fetal age between 49–73 days is sufficient to produce significant muscle fiber abnormality and spinal curvature.A parallel is drawn between these muscle findings and those in a number of human musculoskeletal diseases, and suggests the possibility of a developmental defect in the pathogenesis of these diseases.

scholarly journals The role of RXFP2 in mediating androgen-induced inguinoscrotal testis descent in LH receptor knockout mice

Reproduction ◽  
2010 ◽  
Vol 139 (4) ◽  
pp. 759-769 ◽  
Author(s):  
F P Yuan ◽  
X Li ◽  
J Lin ◽  
C Schwabe ◽  
E E Büllesbach ◽  
...  
Keyword(s):  
Mesenchymal Cell ◽  
Postnatal Period ◽  
Testosterone Replacement Therapy ◽  
Developmental Defect ◽  
Mrna Levels ◽  
Lh Receptor ◽  
Protein Levels ◽  
Testis Descent

LH receptor knockout (LhrKO) male mice exhibit a bilateral cryptorchidism resulting from a developmental defect in the gubernaculum during the inguinoscrotal phase of testis descent, which is corrected by testosterone replacement therapy (TRT).In vivoandin vitroexperiments were conducted to investigate the roles of the androgen receptor (AR) and RXFP2 signals in regulation of gubernacular development inLhrKO animals. This study demonstrated that AR and RXFP2 proteins were expressed in the gubernaculum during the entire postnatal period. TRT normalized gubernacular RXFP2 protein levels inLhrKO mice. Organ and primary cell cultures of gubernacula showed that 5α-dihydrotestosterone (DHT) upregulated the expression ofRxfp2which was abolished by the addition of an AR antagonist, flutamide. A single s.c. testosterone injection also led to a significant increase inRxfp2mRNA levels in a time-dependent fashion inLhrKO animals. DHT, natural and synthetic insulin-like peptide 3 (INSL3), or relaxin alone did not affect proliferation of gubernacular mesenchymal cells, while co-treatments of DHT with either INSL3 or relaxin resulted in an increase in cell proliferation, and they also enhanced the mesenchymal cell differentiation toward the myogenic pathway, which included a decrease in a mesenchymal cell marker, CD44 and the expression of troponin. These effects were attenuated by the addition of flutamide, siRNA-mediatedRxfp2knockdown, or by an INSL3 antagonist. Co-administration of an INSL3 antagonist curtailed TRT-induced inguinoscrotal testis descent inLhrKO mice. Our findings indicate that the RXFP2 signaling pathway plays an important role in mediating androgen action to stimulate gubernaculum development during inguinoscrotal testis descent.

Abstract 248: Aberrant TGFβ Signaling as an Etiology of Left Ventricular Non-compaction Cardiomyopathy

2015 ◽  
Vol 117 (suppl_1) ◽  
Author(s):  
Kazuki Kodo ◽  
Sang-Ging Ong ◽  
Fereshteh Jahanbani ◽  
Vittavat Termglinchan ◽  
Kolsoum InanlooRahatloo ◽  
...  
Keyword(s):  
Left Ventricle ◽  
Transforming Growth Factor Beta ◽  
Transforming Growth Factor ◽  
Induced Pluripotent Stem Cell ◽  
Left Ventricular ◽  
Patient Specific ◽  
Developmental Defect ◽  
Tgfβ Signaling ◽  
Growth Factor Beta ◽  
Induced Pluripotent

Left ventricular non-compaction (LVNC) is the third most prevalent cardiomyopathy in children and has a unique phenotype with characteristically extensive hypertrabeculation of the left ventricle, similar to the embryonic left ventricle, suggesting a developmental defect of the embryonic myocardium. However, studying this disease has been challenging due to the lack of an animal model that can faithfully recapitulate the clinical phenotype of LVNC. To address this, we showed that patient-specific induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs) generated from a family with LVNC history recapitulated a developmental defect consistent with the LVNC phenotype at the single-cell level. We then utilized hiPSC-CMs to show that increased transforming growth factor beta (TGFβ) signaling is one of the central mechanisms underlying the pathogenesis of LVNC. LVNC hiPSC-CMs demonstrated decreased proliferative capacity due to abnormal activation of TGFβ signaling (Figs A-B). Exome sequencing demonstrated a mutation in TBX20, which regulates TGFβ signaling through upregulation of ITGAV, contributing to the LVNC phenotype. Inhibition of abnormal TGFβ signaling or genetic correction of the TBX20 mutation (Figs C-D) using TALEN reversed the proliferation defects seen in LVNC hiPSC-CMs. Our results demonstrate that hiPSC-CMs are a useful tool for the exploration of novel mechanisms underlying poorly understood cardiomyopathies such as LVNC. Here we provide the first evidence of activation of TGFβ signaling as playing a role in the pathogenesis of LVNC.

Zosteriform Nevus Comedonicus

2020 ◽  
Vol 11 (SPL4) ◽  
pp. 2609-2612
Author(s):  
Babbita S ◽  
Thillaikkarasi A ◽  
Sathyanarayanana R ◽  
Narasimhalu CRV ◽  
Sulochana Sonti
Keyword(s):  
Topical Therapy ◽  
Treatment Options ◽  
Neck Region ◽  
Surgical Excision ◽  
Hair Follicles ◽  
Treatment Modalities ◽  
Developmental Defect ◽  
Linear Distribution ◽  
Head And Neck Region ◽  
Typical Morphology

Nevus comedonicus is an uncommon cutaneous developmental defect of follicular apparatus characterized by unilateral and linear distribution of bundles of dilated hair follicles filled with keratin plugs. It is usually seen on the head and neck region, trunk and upper arm. This condition may be present at birth or can occur later in life. The term nevus comedonicus is a misnomer as there are no true comedones and is better termed as follicular keratotic nevus. It is also known as nevus zoniforme or nevus acneiformis unilateralis. There are two types of nevus comedonicus, namely inflammatory and non-inflammatory (non-pyogenic). When nevus comedonicus is manifested with other extracutaneous symptoms, it is termed as nevus comedonicus syndrome. Diagnosis is mainly clinical, based on history and typical morphology. As the disease runs a benign course, no aggressive treatment is required. Patients seek treatment, especially for cosmetic purposes and inflammatory type of lesions. Various treatment modalities like topical therapy, surgical excision, lasers are available and treatment options are individualized based on the size and extent of the lesion. We herein present a case of unilateral nevus comedonicus with no systemic associations in a 30-year-old female on her lower limb which is not a common site of occurrence.

A myb-related protein required for culmination in Dictyostelium

Development ◽  
1999 ◽  
Vol 126 (12) ◽  
pp. 2813-2822 ◽  
Author(s):  
K. Guo ◽  
C. Anjard ◽  
A. Harwood ◽  
H.J. Kim ◽  
P.C. Newell ◽  
...  
Keyword(s):  
Developmental Defect ◽  
Intercellular Signaling ◽  
Wild Type ◽  
Fruiting Body Formation ◽  
Dependent Protein Kinase ◽  
Myb Gene ◽  
Repeat Domain ◽  
Intercellular Signalling ◽  
Dependent Protein ◽  
Signaling Process

The avian retroviral v-myb gene and its cellular homologues throughout the animal and plant kingdoms contain a conserved DNA binding domain. We have isolated an insertional mutant of Dictyostelium unable to switch from slug migration to fruiting body formation i.e. unable to culminate. The gene that is disrupted, mybC, codes for a protein with a myb-like domain that is recognized by an antibody against the v-myb repeat domain. During development of myb+ cells, mybC is expressed only in prestalk cells. When developed together with wild-type cells mybC- cells are able to form both spores and stalk cells very efficiently. Their developmental defect is also bypassed by overexpressing cAMP-dependent protein kinase. However even when their defect is bypassed, mybC null slugs and culminates produce little if any of the intercellular signalling peptides SDF-1 and SDF-2 that are believed to be released by prestalk cells at culmination. We propose that the mybC gene product is required for an intercellular signaling process controlling maturation of stalk cells and spores and that SDF-1 and/or SDF-2 may be implicated in this process.

Mapping mutations in genes encoding the two large subunits of Drosophila RNA polymerase II defines domains essential for basic transcription functions and for proper expression of developmental genes

1993 ◽  
Vol 13 (7) ◽  
pp. 4214-4222
Author(s):  
Y Chen ◽  
J Weeks ◽  
M A Mortin ◽  
A L Greenleaf
Keyword(s):  
Rna Polymerase ◽  
Rna Polymerase Ii ◽  
Dna Sequence ◽  
Pcr Amplification ◽  
Single Strand Conformation Polymorphism ◽  
Chain Elongation ◽  
Developmental Defect ◽  
Genes Encoding ◽  
Transcript Elongation

We have mapped a number of mutations at the DNA sequence level in genes encoding the largest (RpII215) and second-largest (RpII140) subunits of Drosophila melanogaster RNA polymerase II. Using polymerase chain reaction (PCR) amplification and single-strand conformation polymorphism (SSCP) analysis, we detected 12 mutations from 14 mutant alleles (86%) as mobility shifts in nondenaturing gel electrophoresis, thus localizing the mutations to the corresponding PCR fragments of about 350 bp. We then determined the mutations at the DNA sequence level by directly subcloning the PCR fragments and sequencing them. The five mapped RpII140 mutations clustered in a C-terminal portion of the second-largest subunit, indicating the functional importance of this region of the subunit. The RpII215 mutations were distributed more broadly, although six of eight clustered in a central region of the subunit. One notable mutation that we localized to this region was the alpha-amanitin-resistant mutation RpII215C4, which also affects RNA chain elongation in vitro. RpII215C4 mapped to a position near the sites of corresponding mutations in mouse and in Caenorhabditis elegans genes, reinforcing the idea that this region is involved in amatoxin binding and transcript elongation. We also mapped mutations in both RpII215 and RpII140 that cause a developmental defect known as the Ubx effect. The clustering of these mutations in each gene suggests that they define functional domains in each subunit whose alteration induces the mutant phenotype.

An anatomical study of 110 cases with deficiency of the aorticopulmonary septum with emphasis on the role of the arterial duct

1992 ◽  
Vol 2 (4) ◽  
pp. 342-352 ◽  
Author(s):  
Leon M. Gerlis ◽  
Candida C. d'A. MacGregor ◽  
Siew Yen Ho
Keyword(s):  
Aortic Arch ◽  
Anatomical Study ◽  
Left Pulmonary Artery ◽  
Clinical Situation ◽  
Interrupted Aortic Arch ◽  
Developmental Defect ◽  
Common Arterial Trunk ◽  
Arterial Duct ◽  
Arterial Trunk

AbstractTo assess the prevalence and role of the arterial duct in hearts with incomplete development of the aorticopulmonary septum, 110 autopsy specimens, comprising 100 examples of common arterial trunk and 10 cases with aorticopulmonary window, were studied. In addition to intracardiac malformations, these specimens were analyzed to determine the side of the aortic arch, the presence and location of any interruption of the arch, the presence of any anomaly of origin and course of the subclavian arteries, and the status of the arterial duct. The arterial duct was present in 33 cases, absent in 63 cases and undetermined in four cases with common arterial trunk. The duct provided an essential pathway for flow in the 20 cases with interrupted aortic arch, and in two cases with interruption of the proximal portion of the left pulmonary artery. The presence of the duct in 11 cases, in functional terms, was not essential. In the 10 hearts with aorticopulmonary window, the duct was present in eight. It was an obligatory part of the circulatory pathways in three cases where the aortic arch was interrupted. The prevalence of non-obligatory ducts was 71% in hearts with aorticopulmonary window compared to 15% in hearts with common arterial trunk. The prevalence of the duct in cases with aorticopulmonary window suggests this lesion is a later developmental defect. The functional role of an arterial duct in these hearts should be properly assessed in the clinical situation.

scholarly journals Cell-type specific analysis of physiological action of estrogen in mouse oviducts

2020 ◽  
Author(s):  
Emily A. McGlade ◽  
Gerardo G. Herrera ◽  
Kalli K. Stephens ◽  
Sierra L. W. Olsen ◽  
Sarayut Winuthayanon ◽  
...  
Keyword(s):  
Hormone Replacement ◽  
Cell Types ◽  
Normal Embryo ◽  
Developmental Defect ◽  
Cell Type ◽  
Specific Analysis ◽  
Cell Type Specific ◽  
17Β Estradiol ◽  
Oviductal Cell

AbstractOne of the endogenous estrogens, 17β-estradiol (E2) is a female steroid hormone secreted from the ovary. It is well established that E2 causes biochemical and histological changes in the uterus. The oviduct response to E2 is virtually unknown in an in vivo environment. In this study, we assessed the effect of E2 on each oviductal cell type, using an ovariectomized-hormone-replacement mouse model, single cell RNA-sequencing (scRNA-seq), in situ hybridization, and cell-type-specific deletion in mice. We found that each cell type in the oviduct responded to E2 distinctively, especially ciliated and secretory epithelial cells. The treatment of exogenous E2 did not drastically alter the transcriptomic profile from that of endogenous E2 produced during estrus. Moreover, we have identified and validated genes of interest in our datasets that may be used as cell- and region-specific markers in the oviduct. Insulin-like growth factor 1 (Igf1) was characterized as an E2-target gene in the mouse oviduct and was also expressed in human Fallopian tubes. Deletion of Igf1 in progesterone receptor (Pgr)-expressing cells resulted in female subfertility, partially due to an embryo developmental defect and embryo retention within the oviduct. In summary, we have shown that oviductal cell types are differentially regulated by E2 and support gene expression changes that are required for normal embryo development and transport in mouse models.

scholarly journals Dental Management of Generalised Developmental Defect of Enamel in A Child with Global Developmental Delay

2021 ◽  
Vol 2 (6) ◽  
pp. 18-22
Author(s):  
S. N. M. P. Sockalingam ◽  
H. M. Noor
Keyword(s):  
Developmental Delay ◽  
Dental Treatment ◽  
Global Developmental Delay ◽  
Developmental Defect ◽  
Restorative Treatment ◽  
Guidance Strategies ◽  
Medical Issues ◽  
Dental Management ◽  
Structural Durability ◽  
Dental Aesthetics

Development Defect of Enamel (DDE) although not common, can bring about serious sequelae and needs immediate action. If we leave the teeth untreated, many complications such as poor dental aesthetics, chipping of teeth and dental pain often set in. These complications are further aggravated if the patient has any coexisting medical issues, such as Global Developmental Delay (GDD). Children with GDD often exhibit poor oral health with an abundance of plaque that leads to caries and periodontal disease progression because of poor motor and cognitive development. Many of them also exhibit negative behaviour toward dental treatment. This case describes the dental care for a Global Developmental Delay (GDD) child with sporadic generalised Development Defect of Enamel (DDE). The case management touches on the appropriate behaviour guidance strategies used to aid the child’s unfavourable behaviour towards treatment and the restorative treatment performed to preserve the structural durability of the affected teeth in a general dental setting.

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