16,634 results match your criteria Ectodermal Dysplasia


Hypohidrotic Ectodermal Dysplasia: A Rare Disorder with Bilateral Infantile Glaucoma.

J Glaucoma 2018 Dec 11. Epub 2018 Dec 11.

Glaucoma and anterior segment, Dr. Shroff's charity eye hospital, Delhi.

Ectodermal dysplasia is a disorder that occurs due to abnormalities of ectodermal structures such as skin, teeth, hair, nails, and eccrine glands. Approximately 200 different conditions have been identified as ectodermal dysplasia, the most common being hypohidrotic ectodermal dysplasia (HED). It is characterized by hypotrichosis (sparse scalp or body hair), hypodontia (absent or malformed teeth) and hypohidrosis (reduced ability to sweat). Read More

View Article
December 2018
2 Reads

Six1 and Irx1 have reciprocal interactions during cranial placode and otic vesicle formation.

Dev Biol 2018 Dec 5. Epub 2018 Dec 5.

(b)Department of Anatomy and Cell Biology, George Washington University School of Medicine and Health Sciences, Washington DC, 20037, USA. Electronic address:

The specialized sensory organs of the vertebrate head are derived from thickened patches of cells in the ectoderm called cranial sensory placodes. The developmental program that generates these placodes and the genes that are expressed during the process have been studied extensively in a number of animals, yet very little is known about how these genes regulate one another. We previously found via a microarray screen that Six1, a known transcriptional regulator of cranial placode fate, up-regulates Irx1 in ectodermal explants. Read More

View Article
December 2018

Conservation analysis and pathogenicity prediction of mutant genes of ectodysplasin a.

BMC Med Genet 2018 Dec 7;19(1):209. Epub 2018 Dec 7.

Department of Prosthodontics, Changsha Stomatological Hospital, Changsha, 410004, Hunan, China.

Background: Hypohidrotic ectodermal dysplasia (HED) is a common recessive X-linked hereditary disease that affects the development of ectoderm. Gene mutations of ectodysplasin A (EDA) play key roles in process of this disease. In our preliminary study, three unknown mutation sites (c. Read More

View Article
December 2018

[Endocrine complications in primary immunodeficiency diseases].

Authors:
Zita Halász

Orv Hetil 2018 Dec;159(49):2065-2072

I. Gyermekgyógyászati Klinika, Semmelweis Egyetem, Általános Orvostudományi Kar Budapest, Bókay J. u. 53., 1083.

Experimental and clinical data suggest a complex interaction between the endocrine and immune systems. However, only few epidemiological studies are available dealing with endocrine complications in different types of primary immunodeficiency diseases. It is well documented that there is a close association between immunodeficiency syndromes and the development of autoimmune disorders. Read More

View Article
December 2018

Expression of the neuropeptides RFamide and LWamide during development of the coral Acropora millepora in relation to settlement and metamorphosis.

Dev Biol 2018 Dec 3. Epub 2018 Dec 3.

Division of Ecology and Evolution, Bldg 46, Research School of Biology, Australian National University, Canberra, ACT 0200, Australia; ARC Centre of Excellence for Coral Reef Studies, James Cook University, Townsville, QLD 4811, Australia. Electronic address:

Neuropeptides play critical roles in cnidarian development. However, although they are known to play key roles in settlement and metamorphosis, their temporal and spatial developmental expression has not previously been characterized in any coral. We here describe Acropora millepora LWamide and RFamide and their developmental expression from the time of their first appearance, using in situ hybridization and FMRFamide immunohistochemistry. Read More

View Article
December 2018
2 Reads

Comprehensive Review of Spinal Neurenteric Cysts with a Focus on Histopathological Findings.

Cureus 2018 Sep 28;10(9):e3379. Epub 2018 Sep 28.

Neurosurgery, Seattle Science Foundation, Seattle, USA.

Among the occult spinal dysraphisms, neurenteric cysts (NECs) are rare and are thought to arise due to a failure of the separation of the primitive endoderm and ectoderm. Patients experience various neurological symptoms depending on the location of the lesion. As the epithelial morphology of NECs share similarities with other intracranial and intraspinal cystic growths, the definitive diagnosis of NEC can be made after a histochemical analysis with endodermal markers. Read More

View Article
September 2018

bFGF-mediated pluripotency maintenance in human induced pluripotent stem cells is associated with NRAS-MAPK signaling.

Cell Commun Signal 2018 Dec 5;16(1):96. Epub 2018 Dec 5.

Institute of Biochemistry and Molecular Biology II, Medical Faculty of the Heinrich Heine University, Düsseldorf, Germany.

Background: Human pluripotent stem cells (PSCs) open new windows for basic research and regenerative medicine due to their remarkable properties, i.e. their ability to self-renew indefinitely and being pluripotent. Read More

View Article
December 2018

MicroRNA characterization in equine induced pluripotent stem cells.

PLoS One 2018 3;13(12):e0207074. Epub 2018 Dec 3.

LIAN-CONICET, Fundación FLENI, Buenos Aires, Argentina.

Cell reprogramming has been well described in mouse and human cells. The expression of specific microRNAs has demonstrated to be essential for pluripotent maintenance and cell differentiation, but not much information is available in domestic species. We aim to generate horse iPSCs, characterize them and evaluate the expression of different microRNAs (miR-302a,b,c,d, miR-205, miR-145, miR-9, miR-96, miR-125b and miR-296). Read More

View Article
December 2018
5 Reads

Schopf-Schulz-Passarge Syndrome.

Indian Dermatol Online J 2018 Nov-Dec;9(6):448-451

Department of Dermatology, Seth G.S. Medical College and King Edward Memorial Hospital, Mumbai, Maharashtra, India.

Schopf-Schulz-Passarge syndrome (SSPS) is a rare type of ectodermal dysplasia that has autosomal recessive inheritance. It is characterized by palmoplantar keratoderma, hypodontia, hypotrichosis, nail dystrophy, and multiple periocular and eyelid apocrine hidrocystomas. A 36-year-old male presented with multiple eyelid and periocular apocrine hidrocystomas, ichthyosis, palmoplantar keratoderma, hypodontia, nail dystrophy, and thin scalp hair. Read More

View Article
December 2018

Adipose tissue: A natural resource for multipotent mesenchymal stem cells with potential translation to trigerminal layers.

Indian J Plast Surg 2018 May-Aug;51(2):177-181

Manipal Institute of Regenerative Medicine, Bengaluru, Karnataka, India.

Background: The article reports basic science research that establishes that adipose tissue (AT)-derived mesenchymal stem cells (MSCs) have a potential to transgerminal translation.

Study Design: MSC confirmation was obtained by phenotypic spindle-shaped cells as well as with four positive and three negative markers. The translineage translation of adipose-derived MSCs (ADMSCs) was established. Read More

View Article
December 2018
1 Read

The Repo homeodomain transcription factor suppresses hematopoiesis in and preserves the glial fate.

J Neurosci 2018 Nov 30. Epub 2018 Nov 30.

Institut de Génétique et de Biologie Moléculaire et Cellulaire, 67400 Illkirch, France

Despite their different origins, glia and hemocytes are related cell populations that provide an immune function. hemocytes patrol the body cavity and act as macrophages outside the nervous system whereas glia originate from the neuroepithelium and provide the scavenger population of the nervous system. glia are hence the functional orthologs of vertebrate microglia, even though the latter are cells of immune origin that subsequently move into the brain during development. Read More

View Article
November 2018
2 Reads

The transcription factor AmeloD stimulates epithelial cell motility essential for tooth morphology.

J Biol Chem 2018 Nov 30. Epub 2018 Nov 30.

Molecular Biology Section, NIDCR, NIH, United States.

The development of ectodermal organs, such as teeth, requires epithelial-mesenchymal interactions. Basic-helix-loop-helix (bHLH) transcription factors regulate various aspects of tissue development, and we have previously identified a bHLH transcription factor, AmeloD, from a tooth germ cDNA library. Here, we provide both and evidence that AmeloD is important in tooth development. Read More

View Article
November 2018

Comparative evidence for the independent evolution of hair and sweat gland traits in primates.

J Hum Evol 2018 Dec 7;125:99-105. Epub 2018 Nov 7.

Department of Human Evolutionary Biology, Harvard University, Cambridge, MA 02138, USA. Electronic address:

Humans differ in many respects from other primates, but perhaps no derived human feature is more striking than our naked skin. Long purported to be adaptive, humans' unique external appearance is characterized by changes in both the patterning of hair follicles and eccrine sweat glands, producing decreased hair cover and increased sweat gland density. Despite the conspicuousness of these features and their potential evolutionary importance, there is a lack of clarity regarding how they evolved within the primate lineage. Read More

View Article
December 2018

The Rare Neurocutaneous Disorders: Update on Clinical, Molecular, and Neuroimaging Features.

Top Magn Reson Imaging 2018 Dec;27(6):433-462

Division of Pediatric Radiology and Pediatric Neuroradiology, Russell H. Morgan Department of Radiology and Radiological Science, Johns Hopkins University School of Medicine, Baltimore, MD.

Phakomatoses, also known as neurocutaneous disorders, comprise a vast number of entities that predominantly affect structures originated from the ectoderm such as the central nervous system and the skin, but also the mesoderm, particularly the vascular system. Extensive literature exists about the most common phakomatoses, namely neurofibromatosis, tuberous sclerosis, von Hippel-Lindau and Sturge-Weber syndrome. However, recent developments in the understanding of the molecular underpinnings of less common phakomatoses have sparked interest in these disorders. Read More

View Article
December 2018
6 Reads

Disruption of FOXP3-EZH2 Interaction Represents a Pathobiological Mechanism in Intestinal Inflammation.

Cell Mol Gastroenterol Hepatol 2019 14;7(1):55-71. Epub 2018 Sep 14.

Epigenetics and Chromatin Dynamics Laboratory, Division of Gastroenterology and Hepatology and Translational Epigenomic Program, Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota. Electronic address:

Background & Aims: Forkhead box protein 3 (FOXP3) regulatory T cell (Treg) dysfunction is associated with autoimmune diseases; however, the mechanisms responsible for inflammatory bowel disease pathophysiology are poorly understood. Here, we tested the hypothesis that a physical interaction between transcription factor FOXP3 and the epigenetic enzyme enhancer of zeste homolog 2 (EZH2) is essential for gene co-repressive function.

Methods: Human FOXP3 mutations clinically relevant to intestinal inflammation were generated by site-directed mutagenesis. Read More

View Article
September 2018
1 Read

Chronic Mucocutaneous Candidiasis in Autoimmune Polyendocrine Syndrome Type 1.

Front Immunol 2018 19;9:2570. Epub 2018 Nov 19.

Department Parasitology-Mycology, CHU, Lille, France.

Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is an autosomal recessive disease caused by mutations in the autoimmune regulator (AIRE) gene, characterized by the clinical triad of chronic mucocutaneous candidiasis (CMC), hypoparathyroidism, and adrenal insufficiency. CMC can be complicated by systemic candidiasis or oral squamous cell carcinoma (SCC), and may lead to death. The role of chronic infection in the etiopathogenesis of oral SCC is unclear. Read More

View Article
November 2018
2 Reads

Murine exposure to gold nanoparticles during early pregnancy promotes abortion by inhibiting ectodermal differentiation.

Mol Med 2018 Dec 3;24(1):62. Epub 2018 Dec 3.

Division of Obstetrics & Gynaecology, Faculty of Health and Medical Sciences, University of Western Australia, Perth, WA, Australia.

Background: Gold nanoparticles (AuNPs) have been widely studied for biomedical applications, although their safety and potential toxicity in pregnancy remains unknown. The aim of this study is to explore the effect of AuNPs maternal exposure at different gestational ages on fetal survival and development, as well as the potential mechanism of AuNPs affecting embryos and fetuses.

Methods: Thirty nm polyethylene glycol (PEG)-coated AuNPs (A30) were administered to pregnant mice via intravenous injection (5 μg Au/g body weight) over three days at either early or late pregnancy. Read More

View Article
December 2018
2 Reads

Gain-of-function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities.

Am J Med Genet A 2018 Nov 26. Epub 2018 Nov 26.

Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.

Polyamines serve a number of vital functions in humans, including regulation of cellular proliferation, intracellular signaling, and modulation of ion channels. Ornithine decarboxylase 1 (ODC1) is the rate-limiting enzyme in endogenous polyamine synthesis. In this report, we present four patients with a distinct neurometabolic disorder associated with de novo heterozygous, gain-of-function variants in the ODC1 gene. Read More

View Article
November 2018
2 Reads

Characterization of embryonic cells obtained from multifetal reduction.

Front Biosci (Elite Ed) 2019 01 1;11:79-88. Epub 2019 Jan 1.

Center of Excellence for Stem Cells and Regenerative Medicine (CESC), Zewail City of Science and Technology, Giza, Egypt,

The multifetal reduction (MFR) procedure is usually reserved for high-order multiple pregnancies, and aspirated tissues are typically discarded. In this study, cells obtained from MFR tissue (termed multifetal reduction embryonic cells (MFR-ECs)), were characterized by genotypic and phenotypic analyses and tested by injection under the kidney capsule of nude mice. MFR-ECs were highly proliferative in culture and showed a normal karyotype by microarray CGH. Read More

View Article
January 2019
5 Reads

[The effect of EDARV370A on facial and ear morphologies in Uyghur population].

Yi Chuan 2018 Nov;40(11):1024-1032

National Engineering Laboratory for Forensic Science, Key Laboratory of Forensic Genetics of Ministry of Public Security, Beijing Engineering Research Center of Crime Scene Evidence Examination, Institute of Forensic Science, Ministry of Public Security, Beijing 100038, China.

The ectodysplasinA receptor gene (EDAR) plays an important role in the development of ectoderm. The derived G allele of its key missense variant EDARV370A is prevalent in East Asians and Americans, but rare in Africans and Europeans. This leads to distinct ectodermal-derived phenotypes between different continental groups, such as the straighter and thicker hair, more eccrine sweat glands, feminine smaller breasts, shovel incisors characteristic of East Asians. Read More

View Article
November 2018
5 Reads

Chondroectodermal Syndrome.

J Ayub Med Coll Abbottabad 2018 Jul-Sep;30(3):473-475

National Orthopaedic Hospital, Bahawalpur, Pakistan.

Chondroectodermal syndrome or Ellis Van Creveld (EVC) is a rare autosomal recessive congenital disorder. It was first described by Richard W.B. Read More

View Article
November 2018

An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature.

Ital J Pediatr 2018 Nov 20;44(1):138. Epub 2018 Nov 20.

Division of Pediatric Endocrinology, Meyer University Children's Hospital, University of Florence, Florence, Italy.

Background: Trichorhinophalangeal syndrome (TRPS) is a rare autosomal dominant disorder caused by defects involving the TRPS1 gene. It exhibits distinctive craniofacial, ectodermal and skeletal abnormalities, such as sparse hair, bulbous nasal tip and short deformed fingers, with extremely variable expressivity.

Case Presentation: We report the case of a 17 months old girl, who presented growth retardation and dysmorphic features. Read More

View Article
November 2018
1 Read

Klf5 suppresses ERK signaling in mouse pluripotent stem cells.

PLoS One 2018 19;13(11):e0207321. Epub 2018 Nov 19.

Department of Stem Cells and Human Disease Models, Research Center for Animal Life Science, Shiga University of Medical Science, Seta, Tsukinowa-cho, Otsu, Shiga, Japan.

Mouse embryonic stem cells (ESCs) are pluripotent stem cells, which have the ability to differentiate into all three germ layers: mesoderm, endoderm, and ectoderm. Proper levels of phosphorylated extracellular signal-regulated kinase (pERK) are critical for maintaining pluripotency, as elevated pERK evoked by fibroblast growth factor (FGF) receptor activation results in differentiation of ESCs, while, conversely, reduction of pERK by a MEK inhibitor maintains a pluripotent ground state. However, mechanisms underlying proper control of pERK levels in mouse ESCs are not fully understood. Read More

View Article
November 2018
1 Read

New Neuronal Subtypes With a "Pre-Pancreatic" Signature in the Sea Urchin .

Front Endocrinol (Lausanne) 2018 2;9:650. Epub 2018 Nov 2.

Stazione Zoologica Anton Dohrn, Naples, Italy.

Neurons and pancreatic endocrine cells have a common physiology and express a similar toolkit of transcription factors during development. To explain these common features, it has been hypothesized that pancreatic cells most likely co-opted a pre-existing gene regulatory program from ancestral neurons. To test this idea, we looked for neurons with a "pre-pancreatic" program in an early-branched deuterostome, the sea urchin. Read More

View Article
November 2018

Two-Photon Polymerization as a Tool for Studying 3D Printed Topography-Induced Stem Cell Fate.

Macromol Biosci 2018 Nov 14:e1800370. Epub 2018 Nov 14.

Department of Pharmaceutics and Translational Therapeutics, College of Pharmacy, The University of Iowa, Iowa City, IA, 52242, USA.

Geometric topographies are known to influence cellular differentiation toward specific phenotypes, but to date the range of features and type of substrates that can be easily fabricated to study these interactions is somewhat limited. In this study, an emerging technology, two-photon polymerization, is used to print topological patterns with varying feature-size and thereby study their effect on cellular differentiation. This technique offers rapid manufacturing of topographical surfaces with good feature resolution for shapes smaller than 3 µm. Read More

View Article
November 2018
10 Reads

Hypoparathyroidism in children: a study of eight cases.

Tunis Med 2018 Aug - Sep;96(8-09):472-476

Background: Hypoparathyroidism is a rare pediatric endocrine disease, which is caused by low circulating levels of PTH or insensitivity to its action in the target tissues.

Aim: To report the clinical and biochemical characteristics and theoutcome of 8 patients with hypoparathyroidism.

Methods: We analyzed retrospectively the results of clinical, biochemical, radiological findings of patients with hypoparathyroidism diagnosed in pediatric department of Hedi Chaker Hospital during the period 1994-2013. Read More

View Article
November 2018
8 Reads

Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency.

J Clin Invest 2018 Nov 13. Epub 2018 Nov 13.

X-linked dominant incontinentia pigmenti (IP) and X-linked recessive anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) are caused by loss-of-function and hypomorphic NEMO mutations, respectively. We describe a European mother with mild IP and a Japanese mother without IP, whose three boys with EDA-ID died of immunodeficiency. We identify the same private variant in an intron of IKBKG/NEMO, IVS4+866 C>T, which was inherited from and occurred de novo in the European and Japanese mothers, respectively. Read More

View Article
November 2018
4 Reads
13.210 Impact Factor

Novel mutations identified in patients with tooth agenesis by whole-exome sequencing.

Oral Dis 2018 Nov 12. Epub 2018 Nov 12.

Second Dental Clinic, Department of Oral Implantology, Ninth People's Hospital, School of Medicine, Shanghai Key Laboratory of Stomatology, National Clinical Research Center of Stomatology, Shanghai Jiao Tong University, Shanghai, China.

Objectives: To identify potentially pathogenic mutations for tooth agenesis by whole-exome sequencing.

Subjects And Methods: Ten Chinese families including five families with ectodermal dysplasia (syndromic tooth agenesis) and five families with selective tooth agenesis were included. Whole-exome sequencing was performed using genomic DNA. Read More

View Article
November 2018
3 Reads

Efficient and Scalable Directed Differentiation of Clinically Compatible Corneal Limbal Epithelial Stem Cells from Human Pluripotent Stem Cells.

J Vis Exp 2018 Oct 24(140). Epub 2018 Oct 24.

BioMediTech Institute, Faculty of Medicine and Life Sciences, University of Tampere.

Corneal limbal epithelial stem cells (LESCs) are responsible for continuously renewing the corneal epithelium, and thus maintaining corneal homeostasis and visual clarity. Human pluripotent stem cell (hPSC)-derived LESCs provide a promising cell source for corneal cell replacement therapy. Undefined, xenogeneic culture and differentiation conditions cause variation in research results and impede the clinical translation of hPSC-derived therapeutics. Read More

View Article
October 2018
2 Reads

An acute encephalopathy with reduced diffusion in BRAF-associated cardio-facio-cutaneous syndrome.

Brain Dev 2018 Nov 7. Epub 2018 Nov 7.

Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.

Background: Cardio-facio-cutaneous syndrome (CFCS) is a rare genetic disorder characterized by cardiovascular anomalies, dysmorphic faces, ectodermal abnormalities and developmental delays. Mutations in BRAF and other RAS-MAPK pathway-associated genes are commonly identified in patients with CFCS. While this molecular pathway is known to be associated with neuro-inflammatory conditions, only one case with CFCS has been reported thus far to develop acute encephalopathy in childhood. Read More

View Article
November 2018
6 Reads

Establishment of a murine culture system for modeling the temporal progression of cranial and trunk neural crest cell differentiation.

Dis Model Mech 2018 Dec 12;11(12). Epub 2018 Dec 12.

Department of Biological Sciences, University of Wisconsin-Milwaukee, Milwaukee, WI 53201, USA

The neural crest (NC) is a transient population of embryonic progenitors that are implicated in a diverse range of congenital birth defects and pediatric syndromes. The broad spectrum of NC-related disorders can be attributed to the wide variety of differentiated cell types arising from the NC. models of NC development provide a powerful platform for testing the relative contributions of intrinsic and extrinsic factors mediating NC differentiation under normal and pathogenic conditions. Read More

View Article
December 2018
2 Reads

Loss of CXCL12/CXCR4 signalling impacts several aspects of cardiovascular development but does not exacerbate Tbx1 haploinsufficiency.

PLoS One 2018 8;13(11):e0207251. Epub 2018 Nov 8.

Developmental Biology of Birth Defects, UCL Institute of Child Health, London, United Kingdom.

The CXCL12-CXCR4 pathway has crucial roles in stem cell homing and maintenance, neuronal guidance, cancer progression, inflammation, remote-conditioning, cell migration and development. Recently, work in chick suggested that signalling via CXCR4 in neural crest cells (NCCs) has a role in the 22q11.2 deletion syndrome (22q11. Read More

View Article
November 2018
8 Reads

Selective Laminin-Directed Differentiation of Human Induced Pluripotent Stem Cells into Distinct Ocular Lineages.

Cell Rep 2018 Nov;25(6):1668-1679.e5

Department of Ophthalmology, Osaka University Graduate School of Medicine, Suita, Osaka 565-0871, Japan. Electronic address:

The extracellular matrix plays a key role in stem cell maintenance, expansion, and differentiation. Laminin, a basement membrane protein, is a widely used substrate for cell culture including the growth of human induced pluripotent stem cells (hiPSCs). Here, we show that different isoforms of laminin lead to the selective differentiation of hiPSCs into different eye-like tissues. Read More

View Article
November 2018
6 Reads

SoxB1 Activity Regulates Sensory Neuron Regeneration, Maintenance, and Function in Planarians.

Dev Cell 2018 11;47(3):331-347.e5

Department of Biology, San Diego State University, San Diego, CA, USA. Electronic address:

SoxB1 genes play fundamental roles in neurodevelopmental processes and maintaining stem cell multipotency, but little is known about their function in regeneration. We addressed this question by analyzing the activity of the SoxB1 homolog soxB1-2 in the planarian Schmidtea mediterranea. Expression and functional analysis revealed that soxB1-2 marks ectodermal-lineage progenitors, and its activity is required for differentiation of subsets of ciliated epidermal and neuronal cells. Read More

View Article
November 2018
2 Reads

Retinoic acid and BMP4 cooperate with p63 to alter chromatin dynamics during surface epithelial commitment.

Nat Genet 2018 Dec 5;50(12):1658-1665. Epub 2018 Nov 5.

Program in Epithelial Biology, Stanford University School of Medicine, Stanford, CA, USA.

Human embryonic stem cell (hESC) differentiation promises advances in regenerative medicine, yet conversion of hESCs into transplantable cells or tissues remains poorly understood. Using our keratinocyte differentiation system, we employ a multi-dimensional genomics approach to interrogate the contributions of inductive morphogens retinoic acid and bone morphogenetic protein 4 (BMP4) and the epidermal master regulator p63 (encoded by TP63) during surface ectoderm commitment. In contrast to other master regulators, p63 effects major transcriptional changes only after morphogens alter chromatin accessibility, establishing an epigenetic landscape for p63 to modify. Read More

View Article
December 2018
2 Reads

A -Variant in a Litter of Shorthaired Standard Dachshunds with X-Linked Hypohidrotic Ectodermal Dysplasia.

G3 (Bethesda) 2018 Nov 5. Epub 2018 Nov 5.

University of Veterinary Medicine Hannover

In this study, we present a detailed phenotype description and genetic elucidation of the first case of X-linked hypohidrotic ectodermal dysplasia in the shorthaired standard Dachshund. This condition is characterized by partial congenital hypotrichosis, missing and malformed teeth and a lack of eccrine sweat glands. Clinical signs including dental radiographs and histopathological findings were consistent with ectodermal dysplasia. Read More

View Article
November 2018

FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice.

J Bone Miner Res 2018 Nov 5. Epub 2018 Nov 5.

Center for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

Polydactyly is a common congenital anomaly of the hand and foot. Postaxial polydactyly (PAP) is characterized by one or more posterior or postaxial digits. In a Pakistani family with autosomal recessive nonsyndromic postaxial polydactyly type A (PAPA), we performed genomewide genotyping, linkage analysis, and exome and Sanger sequencing. Read More

View Article
November 2018
11 Reads

Anteroposterior molecular registries in ectoderm of the echinus rudiment.

Dev Dyn 2018 Dec 22;247(12):1297-1307. Epub 2018 Nov 22.

Graduate School of Natural Science and Technology, Kanazawa University, Kakuma, Kanazawa, Japan.

Background: Echinoderms and hemichordates are sister taxa that both have larvae with tripartite coeloms. Hemichordates inherit the coelom plan and ectoderm from larvae, whereas echinoderms form the adult rudiment comprising rearranged coeloms and a vestibule that then develops into adult oral ectoderm. Molecular networks that control patterns of the ectoderm and the central nervous system along the anteroposterior (AP) axis are highly conserved between hemichordates and chordates, respectively. Read More

View Article
December 2018
3 Reads

Reliability of prenatal detection of X-linked hypohidrotic ectodermal dysplasia by tooth germ sonography.

Prenat Diagn 2018 Nov 5. Epub 2018 Nov 5.

Center for Ectodermal Dysplasias, University Hospital Erlangen, Erlangen, Germany.

Objective: In X-linked hypohidrotic ectodermal dysplasia (XLHED), dysfunction of ectodysplasin A1 (EDA1) due to EDA mutations results in malformation of hair, teeth, and sweat glands. Hypohidrosis, which can cause life-threatening hyperthermia, is amenable to intrauterine therapy with recombinant EDA1. This study aimed at evaluating tooth germ sonography as a noninvasive means to identify affected fetuses in pregnant carrier women. Read More

View Article
November 2018
3 Reads

Generation of Induced Pluripotent Stem Cells from Human Epidermal Keratinocytes.

Cell Reprogram 2018 Dec 2;20(6):356-364. Epub 2018 Nov 2.

1 Department of Dermatology, The Third Affiliated Hospital of Suzhou University , Changzhou, China .

Induced pluripotent stem cells (iPSCs) play an important role in cell replacement therapy. Several studies have shown that keratinocytes are promising reprogrammed cells. We easily and efficiently enriched epidermal stem cells by attaching them for a limited time in culture dishes. Read More

View Article
December 2018
5 Reads

KDF1 is a novel candidate gene of non-syndromic tooth agenesis.

Arch Oral Biol 2019 Jan 23;97:131-136. Epub 2018 Oct 23.

Guanghua School of Stomatology, Hospital of Stomatology, Guangdong Provincial Key Laboratory of Stomatology, Sun Yat-Sen University, Guangzhou, 510055, China. Electronic address:

Objective: Tooth agenesis (TA) is featured by congenital loss of teeth, and can be divided into two subtypes, non-syndromic TA (NSTA) and syndromic TA (STA). Although 12 candidate genes of NSTA have been revealed, the genetic basis of NSTA needs to be further studied. We noticed an overlap of candidate genes between NSTA and STA, and hypothesized that some candidate genes of STA may be new candidate genes of NSTA. Read More

View Article
January 2019
3 Reads

FRET-based tension measurement across actin-associated mechanotransductive structures using Lima1.

Int J Dev Biol 2018 ;62(9-10):631-636

Department of Life Sciences (Biology), Graduate School of Arts and Sciences, The University of Tokyo, Tokyo, Japan.

During embryogenesis, mechanical forces play important roles in morphogenesis and tissue differentiation. To measure these forces, we developed a new Förster resonance energy transfer (FRET)-based tension sensor that uses the actin-associated protein, Lima1. The sensor was validated in HeLa cells where we found the FRET index decreased or increased in response to changes in the cellular environment. Read More

View Article
January 2018

Outcome after hepatic resection for isolated non-colorectal, non-neuroendocrine liver metastases in 100 patients - the role of the embryologic origin of the primary tumor.

BMC Surg 2018 Oct 29;18(1):89. Epub 2018 Oct 29.

Department of General and Visceral Surgery, Center for Surgery, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Hugstetterstr. 55, D-79106, Freiburg, Germany.

Background: The indication for hepatic resection (HR) in patients suffering from liver metastases (LM) other than colorectal and neuroendocrine tumors is one focus of current multidisciplinary, oncologic considerations. This study retrospectively analyzes outcome after HR for non-colorectal, non-neuroendocrine (NCNNE) LM in the absence of distant or extrahepatic metastases.

Methods: We included 100 consecutive patients undergoing HR for isolated NCNNE LM from a prospective database in our institution, including postoperative follow-up. Read More

View Article
October 2018
3 Reads

Morphology and evolution of bioluminescent organs in the glowbellies (Percomorpha: Acropomatidae) with comments on the taxonomy and phylogeny of Acropomatiformes.

J Morphol 2018 Nov 22;279(11):1640-1653. Epub 2018 Oct 22.

Department of Ecology and Evolutionary Biology and Biodiversity Institute, University of Kansas, Lawrence, Kansas.

Bioluminescent organs have evolved many times within teleost fishes and exhibit a wide range of complexity and anatomical derivation. Although some bioluminescent organs have been studied in detail, the morphology of the bacterial light organs in glowbellies (Acropoma) is largely unknown. This study describes the anatomy of the bioluminescent organs in Haneda's Glowbelly (Acropoma hanedai) and the Glowbelly (Acropoma japonicum) and places the evolution of this light-producing system in the context of a new phylogeny of glowbellies and their relatives. Read More

View Article
November 2018
2 Reads

Tentacle Musculature in the Cubozoan Jellyfish Carybdea marsupialis.

Biol Bull 2018 Oct 24;235(2):91-101. Epub 2018 Aug 24.

The diploblastic cnidarian body plan comprising the epidermis and gastrodermis has remained largely unchanged since it evolved roughly 600 Ma. The origin of muscle from the mesoderm in triploblastic lineages is a central evolutionary question in higher animals. Triploblasts have three embryonic germ layers: the endoderm, mesoderm, and ectoderm, which develop into organs, muscle, and skin, respectively. Read More

View Article
October 2018
9 Reads

Morphological characterization of virus-like particles in coral reef sponges.

PeerJ 2018 17;6:e5625. Epub 2018 Oct 17.

Australian Institute of Marine Science, Townsville, Queensland, Australia.

Marine sponges host complex microbial consortia that vary in their abundance, diversity and stability amongst host species. While our understanding of sponge-microbe interactions has dramatically increased over the past decade, little is known about how sponges and their microbial symbionts interact with viruses, the most abundant entities in the ocean. In this study, we employed three transmission electron microscopy (TEM) preparation methods to provide the first comprehensive morphological assessment of sponge-associated viruses. Read More

View Article
October 2018
7 Reads

5-Aza Exposure Improves Reprogramming Process Through Embryoid Body Formation in Human Gingival Stem Cells.

Front Genet 2018 8;9:419. Epub 2018 Oct 8.

Department of Medical, Oral and Biotechnological Sciences, D'Annunzio University of Chieti-Pescara, Chieti, Italy.

Embryoid bodies (EBs) are three-dimensional aggregates formed by pluripotent stem cells, including embryonic stem cells and induced pluripotent stem cells. They are used as an model to evaluate early extraembryonic tissue formation and differentiation process. In the adult organisms, cell differentiation is controlled and realized through the epigenetic regulation of gene expression, which consists of various mechanisms including DNA methylation. Read More

View Article
October 2018
4 Reads

A distinct isoform of ZNF207 controls self-renewal and pluripotency of human embryonic stem cells.

Nat Commun 2018 10 22;9(1):4384. Epub 2018 Oct 22.

Department of Cell Biology and Neurosciences, Montana State University, Bozeman, MT, 59717, USA.

Self-renewal and pluripotency in human embryonic stem cells (hESCs) depends upon the function of a remarkably small number of master transcription factors (TFs) that include OCT4, SOX2, and NANOG. Endogenous factors that regulate and maintain the expression of master TFs in hESCs remain largely unknown and/or uncharacterized. Here, we use a genome-wide, proteomics approach to identify proteins associated with the OCT4 enhancer. Read More

View Article
October 2018
2 Reads

The effect of ectodermal dysplasia on volume and surface area of maxillary sinus.

Eur Arch Otorhinolaryngol 2018 Dec 20;275(12):2991-2996. Epub 2018 Oct 20.

Private Practice, Kocaeli, Turkey.

Purpose: Ectodermal dysplasia (ED) is a congenital syndrome characterized by abnormal development of ectodermal structures, such as skin, hair, nails, teeth, or salivary glands. Patients with ED demonstrate craniofacial dysmorphology, midfacial hypoplasia and hypodontia. The aim of this study is to evaluate volume and surface area of maxillary sinus and craniofacial structures in patients with ectodermal dysplasia (ED) using cone-beam computed tomography (CBCT) images. Read More

View Article
December 2018
4 Reads