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Muhammad I Alvi, Fatima Mubarak, Kumail Khandwala, Muhammad D Barakzai, Aisha Memon
Epidermoid cyst of the presacral space is a rare congenital lesion of ectodermal origin. Presacral epidermoid cysts have been previously reported in women, however are extremely rare in males. We report a case of presacral epidermoid cyst in a 55-year-old male who presented to our emergency department with acute urinary retention and history of chronic constipation. A non-contrast computed tomography scan was performed with suspicion of urolithiasis, which revealed a well circumscribed low attenuation presacral mass...
January 10, 2018: Curēus
Darren A Cusanovich, James P Reddington, David A Garfield, Riza M Daza, Delasa Aghamirzaie, Raquel Marco-Ferreres, Hannah A Pliner, Lena Christiansen, Xiaojie Qiu, Frank J Steemers, Cole Trapnell, Jay Shendure, Eileen E M Furlong
Understanding how gene regulatory networks control the progressive restriction of cell fates is a long-standing challenge. Recent advances in measuring gene expression in single cells are providing new insights into lineage commitment. However, the regulatory events underlying these changes remain unclear. Here we investigate the dynamics of chromatin regulatory landscapes during embryogenesis at single-cell resolution. Using single-cell combinatorial indexing assay for transposase accessible chromatin with sequencing (sci-ATAC-seq), we profiled chromatin accessibility in over 20,000 single nuclei from fixed Drosophila melanogaster embryos spanning three landmark embryonic stages: 2-4 h after egg laying (predominantly stage 5 blastoderm nuclei), when each embryo comprises around 6,000 multipotent cells; 6-8 h after egg laying (predominantly stage 10-11), to capture a midpoint in embryonic development when major lineages in the mesoderm and ectoderm are specified; and 10-12 h after egg laying (predominantly stage 13), when each of the embryo's more than 20,000 cells are undergoing terminal differentiation...
March 14, 2018: Nature
David R Shook, Eric M Kasprowicz, Lance A Davidson, Raymond Keller
Indirect evidence suggests that blastopore closure during gastrulation of anamniotes, including amphibians such as Xenopus laevis , depends on circumblastoporal convergence forces generated by the marginal zone (MZ), but direct evidence is lacking. We show that explanted MZs generate tensile convergence forces up to 1.5 mN during gastrulation and over 4 mN thereafter. These forces are generated by convergent thickening (CT) until the midgastrula and increasingly by convergent extension (CE) thereafter. Explants from ventralized embryos, which lack tissues expressing CE but close their blastopores, produce up to 2 mN of tensile force, showing that CT alone generates forces sufficient to close the blastopore...
March 13, 2018: ELife
Violeta Trejo-Reveles, Lynn McTeir, Kim Summers, Joe Rainger
Precise anterior segment (AS) development in the vertebrate eye is essential for maintaining ocular health throughout life. Disruptions to genetic programs can lead to severe structural AS disorders at birth, while more subtle AS defects may disrupt the drainage of ocular fluids and cause dysregulation of intraocular pressure homeostasis, leading to progressive vision loss. To date, the mouse has served as the major model to study AS development and pathogenesis. Here we present an accurate histological atlas of chick AS formation throughout eye development, with a focus on the formation of drainage structures...
March 8, 2018: Mechanisms of Development
Ceren D Durmaz, John McGrath, Lu Liu, Halil G Karabulut
Focal dermal hypoplasia (FDH), also known as Goltz-Gorlin syndrome, is a rare, multisystemic, X-linked dominant genodermatosis characterized by defective development of mesodermal and ectodermal tissues. Major clinical features of the disorder are skin manifestations, skeletal defects, and developmental eye abnormalities. FDH is caused by heterozygous mutations in the PORCN gene located at Xp11.23, and 90% of individuals with FDH are females. Here, we report a female patient with cutaneous changes, multiple eye anomalies, short stature, and ectrodactyly of the right foot...
March 10, 2018: Cytogenetic and Genome Research
Maxime Cadieux-Dion, Nicole P Safina, Kendra Engleman, Carol Saunders, Elena Repnikova, Nikita Raje, Kristi Canty, Emily Farrow, Neil Miller, Lee Zellmer, Isabelle Thiffault
BACKGROUND: Ectodermal dysplasias (ED) are a group of diseases that affects the development or function of the teeth, hair, nails and exocrine and sebaceous glands. One type of ED, ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC or Hay-Wells syndrome), is an autosomal dominant disease characterized by the presence of skin erosions affecting the palms, soles and scalp. Other clinical manifestations include ankyloblepharon filiforme adnatum, cleft lip, cleft palate, craniofacial abnormalities and ectodermal defects such as sparse wiry hair, nail changes, dental changes, and subjective hypohydrosis...
March 9, 2018: BMC Medical Genetics
Feng Zhu, Yinling Hu
A pathogenic connection between autoreactive T cells, fungal infection, and carcinogenesis has been demonstrated in studies of human autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) as well as in a mouse model in which kinase-dead Ikkα knock-in mice develop impaired central tolerance, autoreactive T cell-mediated autoimmunity, chronic fungal infection, and esophageal squamous cell carcinoma, which recapitulates APECED. IκB kinase α (IKKα) is one subunit of the IKK complex required for NF-κB activation...
March 9, 2018: BioEssays: News and Reviews in Molecular, Cellular and Developmental Biology
Florence A Giger, Corinne Houart
As the embryonic ectoderm is induced to form the neural plate, cells inside this epithelium acquire restricted identities that will dictate their behavior and progressive differentiation. The first behavior adopted by most neural plate cells is called neurulation, a morphogenetic movement shaping the neuroepithelium into a tube. One cell population is not adopting this movement: the eye field. Giving eye identity to a defined population inside the neural plate is therefore a key neural fate decision. While all other neural population undergo neurulation similarly, converging toward the midline, the eye field moves outwards, away from the rest of the forming neural tube, to form vesicles...
2018: Frontiers in Neuroscience
Anthony Flamier, Supriya Singh, Theodore P Rasmussen
Human birth defects are relatively common and can be caused by exposure to environmental teratogens or to pharmaceuticals with teratogenic activities. Human embryonic stem cells (hESCs), by virtue of their pluripotent nature, provide an excellent cellular platform for teratogen detection and risk assessment. This unit describes detailed protocols for the preparation and validation of highly pluripotent hESCs, the production of large quantities of aggregated multicellular spheroids composed of hESCs, and these spheroids' differentiation into embryoid bodies (EBs)...
February 21, 2018: Current Protocols in Toxicology
Eleanor Bowden, Conor Carroll, Mishaal Gill, Rodney Llewelyn
Regional odontodysplasia (RO) also known as ghost teeth is a rare developmental anomaly affecting the mesodermal and ectodermal components of teeth with characteristic clinical and radiographic findings. The enamel and dentin are hypomineralized and hypocalcified with short roots and open apices. The affected teeth have an abnormal morphology, meaning they are fragile and thin and liable to fracture and decay. Radiographically, there is a marked reduction in radiodensity with little distinction between the enamel and dentin, hence the term "ghost teeth...
January 2018: Journal of Oral and Maxillofacial Pathology: JOMFP
Marta Trevisan, Vanessa Barbaro, Silvia Riccetti, Giulia Masi, Luisa Barzon, Patrizia Nespeca, Gualtiero Alvisi, Enzo Di Iorio, Giorgio Palù
Transgene free UNIPDi002-A-human induced pluripotent stem cell (hiPSC) line was generated by Sendai Virus Vectors reprogramming from human oral mucosal epithelial stem cells (hOMESCs) of a patient affected by ectrodactyly-ectodermal dysplasia-clefting (EEC)-syndrome, carrying a mutation in exon 8 of the TP63 gene (R304Q). The UNIPDi002-A-hiPSC line retained the mutation of the parental R304Q-hOMESCs and displayed a normal karyotype. No residual expression of transgenes nor Sendai virus vector sequences were detected in the line at passage 8...
February 16, 2018: Stem Cell Research
Sughra Wahid, Saqib Aslam, Sadaf Minhas
Ellis-van Creveld syndrome is a rare form of skeletal and chondroectodermal dysplasia which affects all the three ectodermal, mesodermal, and endodermal derivatives. It has an autosomal recessive inheritance. This is caused by mutations in 1 of 2 genes, EVC 1 or EVC 2. This syndrome has a constellation of characteristic features that include bilateral post-axial polydactyly, mainly involving the upper limbs, hypoplastic nails and teeth, congenital heart defects, and chondroectodermal dysplasia. It is mainly a disorder of Amish population where incidence of this disease is 1/5000 and its incidence in non-Amish population is 7/1000000...
March 2018: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
Jason D Dinella, Jiangli Chen, Saiphone Webb, Elaine Siegfried, Alanna F Bree, Senthilnath Lakshmanachetty, Velmurugan Balaiya, Maranke I Koster, Peter J Koch
No abstract text is available yet for this article.
February 23, 2018: Journal of Investigative Dermatology
Miquel Marin-Riera, Jacqueline Moustakas-Verho, Yoland Savriama, Jukka Jernvall, Isaac Salazar-Ciudad
From gastrulation to late organogenesis animal development involves many genetic and bio-mechanical interactions between epithelial and mesenchymal tissues. Ectodermal organs, such as hairs, feathers and teeth are well studied examples of organs whose development is based on epithelial-mesenchymal interactions. These develop from a similar primordium through an epithelial folding and its interaction with the mesenchyme. Despite extensive knowledge on the molecular pathways involved, little is known about the role of bio-mechanical processes in the morphogenesis of these organs...
February 26, 2018: PLoS Computational Biology
I Alajbeg, I Alić, A Andabak-Rogulj, V Brailo, D Mitrečić
OBJECTIVE: To observe simultaneous differentiation and analyse possible interactions between co-cultured human oral mucosal stem cells (hOMSC) and mouse neural stem cells (mNSC). MATERIALS AND METHODS: hOMSC and mNSC were co-cultured in mouse and in human medium, and their immunocytochemical characterization to detect survival rate and differentiation pattern was performed. Co-cultures in different media were compared to hOMSC in human medium and mNSC in mouse medium as controls...
March 2018: Oral Diseases
Evgeniya Anishchenko, Maria Ina Arnone, Salvatore D'Aniello
Background: Current studies in evolutionary developmental biology are focused on the reconstruction of gene regulatory networks in target animal species. From decades, the scientific interest on genetic mechanisms orchestrating embryos development has been increasing in consequence to the fact that common features shared by evolutionarily distant phyla are being clarified. In 2011, a study across eumetazoan species showed for the first time the existence of a highly conserved non-coding element controlling the SoxB2 gene, which is involved in the early specification of the nervous system...
2018: EvoDevo
Mu Song Jeon, Gwang Ha Kim, Dong Young Jeong, Byeong Kyu Park, Moon Won Lee, So-Jeong Lee, Do Youn Park
Ectopic sebaceous glands are found very rarely in the esophagus; heretofore, several cases have been reported. The sebaceous gland is originally a source of an endodermal origin; however, there have been controversies regarding whether the origin of the esophageal ectopic sebaceous gland is ectodermal or endodermal. Ectopic sebaceous glands of the esophagus usually do not cause symptoms; thus, they are often found incidentally on endoscopy for routine health screening. Endoscopic findings are characterized by single or multiple yellow patches or nodular lesions of various sizes, sometimes with small central openings...
February 26, 2018: Clinical Endoscopy
Marta Trevisan, Enzo Di Iorio, Giulia Masi, Silvia Riccetti, Luisa Barzon, Gualtiero Alvisi, Luciana Caenazzo, Vanessa Barbaro, Giorgio Palù
Oral mucosa epithelial stem cells from a patient affected by Ectrodactyly-Ectodermal dysplasia-Clefting (EEC) syndrome carrying the R279H mutation in the TP63 gene were reprogrammed into human induced pluripotent stem cells (hiPSCs) with episomal vectors. The generated UNIPDi003-A-hPSC line retained the mutation of the parental cells and showed a normal karyotype upon long term culture. Analysis of residual transgenes expression showed that the episomal vectors were eliminated from the cell line. UNIPDi003-A-hiPSCs expressed the undifferentiated state marker alkaline phosphatase along with a panel of pluripotency markers, and formed embryoid bodies capable of expressing markers belonging to all the three germ layers...
February 16, 2018: Stem Cell Research
Michelle K Y Seah, Daniel M Messerschmidt
When reflecting about cell fate commitment we think of differentiation. Be it during embryonic development or in an adult stem cell niche, where cells of a higher potency specialize and cell fate decisions are taken. Under normal circumstances this process is definitive and irreversible. Cell fate commitment is achieved by the establishment of cell-type-specific transcriptional programmes, which in turn are guided, reinforced, and ultimately locked-in by epigenetic mechanisms. Yet, this plunging drift in cellular potency linked to epigenetically restricted access to genomic information is problematic for reproduction...
2018: Current Topics in Developmental Biology
Veronica F Hinman, Robert D Burke
The phylogenetic position of echinoderms is well suited to revealing shared features of deuterostomes that distinguish them from other bilaterians. Although echinoderm neurobiology remains understudied, genomic resources, molecular methods, and systems approaches have enabled progress in understanding mechanisms of embryonic neurogenesis. Even though the morphology of echinoderm larvae is diverse, larval nervous systems, which arise during gastrulation, have numerous similarities in their organization. Diverse neural subtypes and specialized sensory neurons have been identified and details of neuroanatomy using neuron-specific labels provide hypotheses for neural function...
February 22, 2018: Wiley Interdisciplinary Reviews. Developmental Biology
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