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Results: 1 to 9 of 9

Publication Record


Symptomatic Accessory Medial Meniscus Associated With Popliteal Pterygium Syndrome.
Funk SS, Block JJ, Martus JE, Schoenecker JG
(2015) J Pediatr Orthop 35: e76-9
MeSH Terms: Child, Cleft Lip, Cleft Palate, Eye Abnormalities, Fingers, Humans, Joint Instability, Knee Joint, Lower Extremity Deformities, Congenital, Male, Menisci, Tibial, Syndactyly, Urogenital Abnormalities
Show Abstract · Added February 22, 2016
BACKGROUND - Anomalies of the meniscus are uncommon. These anomalous formations have been predominately described in the lateral compartment of the knee. Congenital abnormalities of the medial meniscus are rare.
METHODS - Chart and radiographic review of a single patient with a symptomatic congenital abnormality of the medial meniscus.
RESULTS - The patient was a 5-year-old boy with popliteal pterygium who developed painful snapping in the medial knee after anterior hemiepiphyseodesis to improve his knee extension. The patient had achieved full-knee extension from a preoperative 45-degree flexion contracture. The newly developed snapping was attributed to the hemiepiphyseodesis implants. After implant removal, the snapping persisted and was localized at the medial joint line. Through an arthrotomy, a medial meniscus abnormality was identified and excised with resolution of symptoms.
CONCLUSIONS - This report describes a symptomatic congenital abnormality of the medial meniscus in a child with popliteal pterygium. The patient was treated with excision of the anomalous structure with complete resolution of the symptoms. This is the first report of an intra-articular knee anomaly associated with popliteal pterygium syndrome.
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13 MeSH Terms
A piggyBac insertion disrupts Foxl2 expression that mimics BPES syndrome in mice.
Shi F, Ding S, Zhao S, Han M, Zhuang Y, Xu T, Wu X
(2014) Hum Mol Genet 23: 3792-800
MeSH Terms: Animals, Blepharophimosis, DNA Transposable Elements, Disease Models, Animal, Forkhead Box Protein L2, Forkhead Transcription Factors, Humans, Maxilla, Mice, Mutagenesis, Insertional, Skin Abnormalities, Urogenital Abnormalities
Show Abstract · Added September 26, 2018
Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) is an autosomal dominant genetic disorder characterized by small palpebral fissures and other craniofacial malformations, often with (type I) but could also without (type II) premature ovarian failure. While mutations of the forkhead transcription factor FOXL2 are associated with and likely be responsible for many BPES cases, how FOXL2 affects craniofacial development remain to be understood. Through a large-scale piggyBac (PB) insertion mutagenesis, we have identified a mouse mutant carrying a PB insertion ∼160 kb upstream of the transcription start site (TSS) of Foxl2. The insertion reduces, but not eliminates, the expression of Foxl2. This mutant, but not its revertant, displays BPES-like conditions such as midface hypoplasia, eyelid abnormalities and female subfertility. Further analysis indicates that the mutation does not affect mandible, but causes premature fusion of the premaxilla-maxilla suture, smaller premaxilla and malformed maxilla during midface development. We further identified an evolutionarily conserved fragment near the insertion site and observed enhancer activity of this element in tissue culture cells. Analyses using DNase I hypersensitivity assay and chromosome conformation capture assay in developing maxillary and periocular tissues suggest that the DNA region near the insertion site likely interacts with Foxl2 TSS. Therefore, this mutant presents an excellent animal model for mechanistic study of BPES and regulation of Foxl2.
© The Author 2014. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.
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MeSH Terms
Deletion of fibroblast growth factor receptor 2 from the peri-wolffian duct stroma leads to ureteric induction abnormalities and vesicoureteral reflux.
Walker KA, Sims-Lucas S, Di Giovanni VE, Schaefer C, Sunseri WM, Novitskaya T, de Caestecker MP, Chen F, Bates CM
(2013) PLoS One 8: e56062
MeSH Terms: Animals, Bone Morphogenetic Protein 4, Gene Deletion, Gene Expression Regulation, Developmental, Mice, Mice, Knockout, Receptor, Fibroblast Growth Factor, Type 2, Stromal Cells, T-Box Domain Proteins, Ureter, Urinary Bladder, Urogenital Abnormalities, Vesico-Ureteral Reflux, Wolffian Ducts
Show Abstract · Added November 21, 2013
PURPOSE - Pax3cre-mediated deletion of fibroblast growth factor receptor 2 (Fgfr2) broadly in renal and urinary tract mesenchyme led to ureteric bud (UB) induction defects and vesicoureteral reflux (VUR), although the mechanisms were unclear. Here, we investigated whether Fgfr2 acts specifically in peri-Wolffian duct stroma (ST) to regulate UB induction and development of VUR and the mechanisms of Fgfr2 activity.
METHODS - We conditionally deleted Fgfr2 in ST (Fgfr2(ST-/-)) using Tbx18cre mice. To look for ureteric bud induction defects in young embryos, we assessed length and apoptosis of common nephric ducts (CNDs). We performed 3D reconstructions and histological analyses of urinary tracts of embryos and postnatal mice and cystograms in postnatal mice to test for VUR. We performed in situ hybridization and real-time PCR in young embryos to determine mechanisms underlying UB induction defects.
RESULTS - We confirmed that Fgfr2 is expressed in ST and that Fgfr2 was efficiently deleted in this tissue in Fgfr2(ST-/-) mice at embryonic day (E) 10.5. E11.5 Fgfr2(ST-/-) mice had randomized UB induction sites with approximately 1/3 arising too high and 1/3 too low from the Wolffian duct; however, apoptosis was unaltered in E12.5 mutant CNDs. While ureters were histologically normal, E15.5 Fgfr2(ST-/-) mice exhibit improper ureteral insertion sites into the bladder, consistent with the ureteric induction defects. While ureter and bladder histology appeared normal, postnatal day (P) 1 mutants had high rates of VUR versus controls (75% versus 3%, p = 0.001) and occasionally other defects including renal hypoplasia and duplex systems. P1 mutant mice also had improper ureteral bladder insertion sites and shortened intravesicular tunnel lengths that correlated with VUR. E10.5 Fgfr2(ST-/-) mice had decreases in Bmp4 mRNA in stromal tissues, suggesting a mechanism underlying the ureteric induction and VUR phenotypes.
CONCLUSION - Mutations in FGFR2 could possibly cause VUR in humans.
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14 MeSH Terms
UG4 enhancer-driven GATA-2 and bone morphogenetic protein 4 complementation remedies the CAKUT phenotype in Gata2 hypomorphic mutant mice.
Ainoya K, Moriguchi T, Ohmori S, Souma T, Takai J, Morita M, Chandler KJ, Mortlock DP, Shimizu R, Engel JD, Lim KC, Yamamoto M
(2012) Mol Cell Biol 32: 2312-22
MeSH Terms: Animals, Bone Morphogenetic Protein 4, Enhancer Elements, Genetic, GATA2 Transcription Factor, Gene Expression Regulation, Developmental, Mesoderm, Mice, Mutation, Urogenital Abnormalities, Urogenital System, Vesico-Ureteral Reflux
Show Abstract · Added May 27, 2014
During renal development, the proper emergence of the ureteric bud (UB) from the Wolffian duct is essential for formation of the urinary system. Previously, we showed that expression of transcription factor GATA-2 in the urogenital primordium was demarcated anteroposteriorly into two domains that were regulated by separate enhancers. While GATA-2 expression in the caudal urogenital mesenchyme is controlled by the UG4 enhancer, its more-rostral expression is regulated by UG2. We found that anteriorly displaced budding led to obstructed megaureters in Gata2 hypomorphic mutant mice, possibly due to reduced expression of the downstream effector bone morphogenetic protein 4 (BMP4). Here, we report that UG4-driven, but not UG2-driven, GATA-2 expression in the urogenital mesenchyme significantly reverts the uropathy observed in the Gata2 hypomorphic mutant mice. Furthermore, the data show that transgenic rescue by GATA-2 reverses the rostral outgrowth of the UB. We also provide evidence for a GATA-2-BMP4 epistatic relationship by demonstrating that reporter gene expression from a Bmp4 bacterial artificial chromosome (BAC) transgene is altered in Gata2 hypomorphs; furthermore, UG4-directed BMP4 expression in the mutants leads to reduced incidence of megaureters. These results demonstrate that GATA-2 expression in the caudal urogenital mesenchyme as directed by the UG4 enhancer is crucial for proper development of the urinary tract and that its regulation of BMP4 expression is a critical aspect of this function.
2 Communities
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11 MeSH Terms
Evidence to inform decisions about maternal-fetal surgery: technical brief.
Hartmann KE, McPheeters ML, Chescheir NC, Gillam-Krakauer M, McKoy JN, Jerome R, Sathe NA, Meints L, Walsh WF
(2011) Obstet Gynecol 117: 1191-204
MeSH Terms: Bronchopulmonary Sequestration, Cardiovascular Abnormalities, Cystic Adenomatoid Malformation of Lung, Congenital, Female, Fetal Diseases, Fetal Therapies, Fetofetal Transfusion, Hernia, Diaphragmatic, Hernias, Diaphragmatic, Congenital, Humans, Meningomyelocele, Pregnancy, Spinal Dysraphism, Teratoma, Treatment Outcome, Urogenital Abnormalities
Show Abstract · Added March 5, 2014
OBJECTIVE - To summarize the state of research in maternal-fetal surgery regarding the surgical repair of abnormalities in fetuses in the womb.
DATA SOURCES - We searched MEDLINE from 1980 to 2010 for studies of maternal-fetal surgery for the following conditions: twin-twin transfusion syndrome, obstructive uropathy, congenital diaphragmatic hernia, myelomeningocele, thoracic lesions, cardiac malformations, and sacrococcygeal teratoma.
METHODS OF STUDY SELECTION - We used pilot-tested data collection forms to screen publications for inclusion and to extract data. We compiled information about how fetal diagnoses were defined, maternal inclusion criteria, type of surgery, study design, country, setting, comparators used, length of follow-up, outcomes measured, and adverse events.
TABULATION, INTEGRATION, AND RESULTS - Two reviewers independently extracted data and discordance was resolved by a third party. Of 1,341 articles located, we retained 258 (comprising 166 unique study populations). Three studies were randomized controlled trials; the majority of the evidence was observational (116 case series [70%], 36 retrospective [22%], and 11 prospective [7%] cohorts). Twin-twin transfusion is the most studied condition, with 84 studies including 2,532 pregnancies. Fewer than 500 pregnancies are represented in the literature for each of the other conditions except congenital diaphragmatic hernia (n=503). Inclusion criteria were poorly specified. Outcomes typically measured were survival to birth, preterm birth, and neonatal death. Longer-term outcomes were sparse but included pulmonary, renal, and neurologic status and developmental milestones. Maternal outcome data were rare.
CONCLUSION - Although developing rapidly, maternal-fetal surgery research has yet to achieve the typical quality of studies and aggregate strength of evidence needed to optimally inform care.
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16 MeSH Terms
The renin-angiotensin system in the development of the congenital anomalies of the kidney and urinary tract.
Niimura F, Kon V, Ichikawa I
(2006) Curr Opin Pediatr 18: 161-6
MeSH Terms: Animals, Humans, Kidney, Kidney Glomerulus, Phenotype, Polymorphism, Genetic, Receptors, Angiotensin, Renin-Angiotensin System, Ureter, Urinary Tract, Urogenital Abnormalities
Show Abstract · Added January 25, 2012
PURPOSE OF REVIEW - Recognition of the dramatically expanded functional repertoire of the renin-angiotensin system now includes a role in morphogenesis of the kidney and urinary tract. On the basis of published data, the article presents formulations of mechanisms through which the system operates.
RECENT FINDINGS - Studies in humans and animals carrying defective angiotensin-related genes have provided unequivocal evidence that the renin-angiotensin system is involved in the normal development of both the kidney and the urinary tract. Angiotensin exerts its function through at least two different types of receptors, AT1 and AT2. AT1 mediates establishment of the ureteral peristaltic machinery, while AT2 mediates the early kidney and urinary tract morphogenesis. Disruption in receptor functions promotes development of congenital anomalies of the kidney and urinary tract.
SUMMARY - Angiotensin is involved in multiple steps of normal development of the kidney and urinary tract through two types of receptors. This takes place in concert with other functionally overlapping genes.
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11 MeSH Terms
Fgd1, the Cdc42 GEF responsible for Faciogenital Dysplasia, directly interacts with cortactin and mAbp1 to modulate cell shape.
Hou P, Estrada L, Kinley AW, Parsons JT, Vojtek AB, Gorski JL
(2003) Hum Mol Genet 12: 1981-93
MeSH Terms: Actin Cytoskeleton, Actin-Related Protein 2, Actin-Related Protein 3, Amino Acid Sequence, Animals, Cell Line, Cell Size, Cortactin, Cytoskeletal Proteins, Facial Bones, Fibrous Dysplasia, Polyostotic, Guanine Nucleotide Exchange Factors, Mice, Microfilament Proteins, Molecular Sequence Data, Proteins, Sequence Homology, Amino Acid, Syndrome, Urogenital Abnormalities, cdc42 GTP-Binding Protein, src Homology Domains
Show Abstract · Added February 27, 2013
FGD1 mutations result in Faciogenital Dysplasia (FGDY), an X-linked human disease that affects skeletal formation and embryonic morphogenesis. FGD1 and Fgd1, the mouse FGD1 ortholog, encode guanine nucleotide exchange factors (GEF) that specifically activate Cdc42, a Rho GTPase that controls the organization of the actin cytoskeleton. To further understand FGD1/Fgd1 signaling and begin to elucidate the molecular pathophysiology of FGDY, we demonstrate that Fgd1 directly interacts with cortactin and mouse actin-binding protein 1 (mAbp1), actin-binding proteins that regulate actin polymerization through the Arp2/3 complex. In yeast two-hybrid studies, cortactin and mAbp1 Src homology 3 (SH3) domains interact with a single Fgd1 SH3-binding domain (SH3-BD), and biochemical studies show that the Fgd1 SH3-BD directly binds to cortactin and mAbp1 in vitro. Immunoprecipitation studies show that Fgd1 interacts with cortactin and mAbp1 in vivo and that Fgd1 SH3-BD mutations disrupt binding. Immunocytochemical studies show that Fgd1 colocalizes with cortactin and mAbp1 in lamellipodia and membrane ruffles, and that Fgd1 subcellular targeting is dynamic. By using truncated cortactin proteins, immunocytochemical studies show that the cortactin SH3 domain targets Fgd1 to the subcortical actin cytoskeleton, and that abnormal Fgd1 localization results in actin cytoskeletal abnormalities and significant changes in cell shape and viability. Thus, this study provides novel in vitro and in vivo evidence that Fgd1 specifically and directly interacts with cortactin and mAbp1, and that these interactions play an important role in regulating the actin cytoskeleton and, subsequently, cell shape.
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21 MeSH Terms
The Caenorhabditis elegans homolog of FGD1, the human Cdc42 GEF gene responsible for faciogenital dysplasia, is critical for excretory cell morphogenesis.
Gao J, Estrada L, Cho S, Ellis RE, Gorski JL
(2001) Hum Mol Genet 10: 3049-62
MeSH Terms: Amino Acid Sequence, Animals, Blotting, Northern, Caenorhabditis elegans, Caenorhabditis elegans Proteins, Down-Regulation, Facial Bones, Guanine Nucleotide Exchange Factors, Helminth Proteins, Humans, Kidney, Molecular Sequence Data, Morphogenesis, Mutation, Polymerase Chain Reaction, Proteins, Sequence Homology, Syndrome, Urogenital Abnormalities, cdc42 GTP-Binding Protein
Show Abstract · Added February 27, 2013
FGD1 mutations result in faciogenital dysplasia, an X-linked human disease that affects skeletogenesis. FGD1 encodes a guanine nucleotide exchange factor (GEF) that specifically activates the Rho GTPase Cdc42. To gain insight into the function of FGD1, we have isolated and characterized fgd-1, the Caenorhabditis elegans homolog of the human FGD1 gene. Comparative sequence analyses show that fgd-1 and FGD1 share a similar structural organization and a high degree of sequence identity throughout shared signaling domains. In nematodes, interference with fgd-1 expression results in excretory cell abnormalities and cystic dilation of the excretory cell canals. Molecular lesions associated with two exc-5 alleles affect the fgd-1 gene, and fgd-1 transgenic expression rescues the Exc-5 phenotype. Together, these data confirm that the fgd-1 transcript corresponds to the exc-5 gene. Transgenic expression studies show that fgd-1 has a limited pattern of expression that is confined to the excretory cell during development, a finding that suggests that the C.elegans FGD-1 protein might function in a cell autonomous manner. Serial observations indicate that fgd-1 mutations lead to developmental excretory cell abnormalities that cause cystic dilation and interfere with canal process extension. Based on these data, we conclude that fgd-1 is the C.elegans homolog of the human FGD1 gene, a new member of the FGD1-related family of RhoGEF genes, and that fgd-1 plays a critical role in excretory cell morphogenesis and cellular organization.
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20 MeSH Terms
Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome.
Goodman FR, Bacchelli C, Brady AF, Brueton LA, Fryns JP, Mortlock DP, Innis JW, Holmes LB, Donnenfeld AE, Feingold M, Beemer FA, Hennekam RC, Scambler PJ
(2000) Am J Hum Genet 67: 197-202
MeSH Terms: Abnormalities, Multiple, Child, Codon, Nonsense, DNA Mutational Analysis, Female, Foot Deformities, Congenital, Genes, Homeobox, Hand Deformities, Congenital, Homeodomain Proteins, Humans, Infant, Male, Molecular Sequence Data, Mutation, Mutation, Missense, Pedigree, Phenotype, Radiography, Sequence Deletion, Syndrome, Urogenital Abnormalities
Show Abstract · Added June 9, 2010
Hand-foot-genital syndrome (HFGS) is a rare, dominantly inherited condition affecting the distal limbs and genitourinary tract. A nonsense mutation in the homeobox of HOXA13 has been identified in one affected family, making HFGS the second human syndrome shown to be caused by a HOX gene mutation. We have therefore examined HOXA13 in two new and four previously reported families with features of HFGS. In families 1, 2, and 3, nonsense mutations truncating the encoded protein N-terminal to or within the homeodomain produce typical limb and genitourinary abnormalities; in family 4, an expansion of an N-terminal polyalanine tract produces a similar phenotype; in family 5, a missense mutation, which alters an invariant domain, produces an exceptionally severe limb phenotype; and in family 6, in which limb abnormalities were atypical, no HOXA13 mutation could be detected. Mutations in HOXA13 can therefore cause more-severe limb abnormalities than previously suspected and may act by more than one mechanism.
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21 MeSH Terms