2,342 results match your criteria CREST Syndrome


Pathological ASXL1 Mutations and Protein Variants Impair Neural Crest Development.

Stem Cell Reports 2019 Apr 4. Epub 2019 Apr 4.

Institute for Stem Cell Research, Helmholtz Zentrum München GmbH, 85764 Neuherberg, Germany. Electronic address:

The neural crest (NC) gives rise to a multitude of fetal tissues, and its misregulation is implicated in congenital malformations. Here, we investigated molecular mechanisms pertaining to NC-related symptoms in Bohring-Opitz syndrome (BOS), a developmental disorder linked to mutations in the Polycomb group factor Additional sex combs-like 1 (ASXL1). Genetically edited human pluripotent stem cell lines that were differentiated to NC progenitors and then xenotransplanted into chicken embryos demonstrated an impairment of NC delamination and emigration. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S22136711193009
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http://dx.doi.org/10.1016/j.stemcr.2019.03.006DOI Listing
April 2019
1 Read

Modeling the Pathological Long-Range Regulatory Effects of Human Structural Variation with Patient-Specific hiPSCs.

Cell Stem Cell 2019 Mar 21. Epub 2019 Mar 21.

Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany; Cluster of Excellence Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany; Institute of Biomedicine and Biotechnology of Cantabria (IBBTEC), University of Cantabria, Cantabria, Spain. Electronic address:

The pathological consequences of structural variants disrupting 3D genome organization can be difficult to elucidate in vivo due to differences in gene dosage sensitivity between mice and humans. This is illustrated by branchiooculofacial syndrome (BOFS), a rare congenital disorder caused by heterozygous mutations within TFAP2A, a neural crest regulator for which humans, but not mice, are haploinsufficient. Here, we present a BOFS patient carrying a heterozygous inversion with one breakpoint located within a topologically associating domain (TAD) containing enhancers essential for TFAP2A expression in human neural crest cells (hNCCs). Read More

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http://dx.doi.org/10.1016/j.stem.2019.03.004DOI Listing

An FDA-Approved Drug Screen for Compounds Influencing Craniofacial Skeletal Development and Craniosynostosis.

Mol Syndromol 2019 Feb 21;10(1-2):98-114. Epub 2018 Jul 21.

Genetics and Genomic Medicine, UCL Institute of Child Health, London, UK.

Neural crest stem/progenitor cells (NCSCs) populate a variety of tissues, and their dysregulation is implicated in several human diseases including craniosynostosis and neuroblastoma. We hypothesised that small molecules that inhibit NCSC induction or differentiation may represent potential therapeutically relevant drugs in these disorders. We screened 640 FDA-approved compounds currently in clinical use for other conditions to identify those which disrupt development of NCSC-derived skeletal elements that form the zebrafish jaw. Read More

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https://www.karger.com/Article/FullText/491567
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http://dx.doi.org/10.1159/000491567DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6422125PMC
February 2019
3 Reads

Williams Syndrome, Human Self-Domestication, and Language Evolution.

Front Psychol 2019 18;10:521. Epub 2019 Mar 18.

Department of Spanish, Linguistics, and Theory of Literature, Faculty of Philology, University of Seville, Seville, Spain.

Language evolution resulted from changes in our biology, behavior, and culture. One source of these changes might be human self-domestication. Williams syndrome (WS) is a clinical condition with a clearly defined genetic basis which results in a distinctive behavioral and cognitive profile, including enhanced sociability. Read More

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http://dx.doi.org/10.3389/fpsyg.2019.00521DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6431629PMC

Crucial and Overlapping Roles of Six1 and Six2 in Craniofacial Development.

J Dent Res 2019 May 24;98(5):572-579. Epub 2019 Mar 24.

1 Division of Developmental Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.

SIX1 and SIX2 encode closely related transcription factors of which disruptions have been associated with distinct craniofacial syndromes, with mutations in SIX1 associated with branchiootic syndrome 3 (BOS3) and heterozygous deletions of SIX2 associated with frontonasal dysplasia defects. Whereas mice deficient in Six1 recapitulated most of the developmental defects associated with BOS3, mice lacking Six2 function had no obvious frontonasal defects. We show that Six1 and Six2 exhibit partly overlapping patterns of expression in the developing mouse embryonic frontonasal, maxillary, and mandibular processes. Read More

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http://dx.doi.org/10.1177/0022034519835204DOI Listing

Hematological Effects of Non-Homogenous Ionizing Radiation Exposure in a Non-Human Primate Model.

Radiat Res 2019 Mar 14. Epub 2019 Mar 14.

a   Division of Translational Radiation Sciences, Department of Radiation Oncology, University of Maryland School of Medicine, Baltimore, Maryland 21201.

Detonation of a radiological or nuclear device in a major urban area will result in heterogenous radiation exposure, given to the significant shielding of the exposed population due to surrounding structures. Development of biodosimetry assays for triage and treatment requires knowledge of the radiation dose-volume effect for the bone marrow (BM). This proof-of-concept study was designed to quantify BM damage in the non-human primate (NHP) after exposure to one of four radiation patterns likely to occur in a radiological/nuclear attack with varying levels of BM sparing. Read More

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http://www.rrjournal.org/doi/10.1667/RR15280.1
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http://dx.doi.org/10.1667/RR15280.1DOI Listing
March 2019
9 Reads

Spontaneous Osteonecrosis of the Tarsal Navicular: A Report of Two Cases.

Case Rep Orthop 2019 30;2019:5952435. Epub 2019 Jan 30.

Department of Orthopaedic Surgery, Graduate School of Medicine, Mie University, 2-174 Edobashi, Tsu, Mie 514-8507, Japan.

Spontaneous osteonecrosis of the tarsal navicular, called the Mueller-Weiss syndrome, is an uncommon disease. Patients who are resistant to conservative treatment require operative treatment. However, there is no established operative treatment. Read More

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http://dx.doi.org/10.1155/2019/5952435DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6374815PMC
January 2019
1 Read

Hypoplastic Left Heart Syndrome: A New Paradigm for an Old Disease?

J Cardiovasc Dev Dis 2019 Feb 23;6(1). Epub 2019 Feb 23.

Cardiovascular Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 7RU, UK.

Hypoplastic left heart syndrome occurs in up to 3% of all infants born with congenital heart disease and is a leading cause of death in this population. Although there is strong evidence for a genetic component, a specific genetic cause is only known in a small subset of patients, consistent with a multifactorial etiology for the syndrome. There is controversy surrounding the mechanisms underlying the syndrome, which is likely due, in part, to the phenotypic variability of the disease. Read More

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http://dx.doi.org/10.3390/jcdd6010010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6462956PMC
February 2019

Determination of mandibular morphology in a TURKISH population with Down syndrome using panoramic radiography.

Authors:
Samed Satir

BMC Oral Health 2019 Feb 26;19(1):36. Epub 2019 Feb 26.

Akdeniz University, Faculty of Dentistry, Oral and Maxillofacial Radiology, Akdeniz University Dumlupinar Boulevard 07058 Campus Antalya, Antalya, Turkey.

Background: Down syndrome (DS) is by far the most common known chromosomal disorder. Some characteristic features of DS are generalised growth deficiency, craniofacial abnormalities such as mandibular prognathism and underdevelopment of the midfacial region, dental abnormalities such as taurodontism and hypodontia. Individuals with DS have an increased prevalence of periodontal disease compared with age-matched control patients. Read More

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http://dx.doi.org/10.1186/s12903-019-0722-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6390525PMC
February 2019

Predicting congenital rubella syndrome in Japan, 2018-2019.

Int J Infect Dis 2019 Feb 23;82:1-5. Epub 2019 Feb 23.

Graduate School of Medicine, Hokkaido University, Kita 15-Jo Nishi 7-Chome, Kita-ku, Sapporo-shi, Hokkaido 060-8638, Japan; CREST, Japan Science and Technology Agency, Honcho 4-1-8, Kawaguchi, Saitama, 332-0012 Japan. Electronic address:

Objectives: A rubella epidemic has been ongoing in Japan since August 2018. In the present study, we aimed to predict the likely size of a congenital rubella syndrome (CRS) epidemic during 2018-19.

Methods: The expected number of CRS cases was estimated using an integral equation based on age-specific incidence of rubella among adult women, the time delay from gestational age of infection to diagnosis of CRS, and distribution of the mothers' age at delivery. Read More

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http://dx.doi.org/10.1016/j.ijid.2019.02.021DOI Listing
February 2019
2 Reads
2.330 Impact Factor

Novel PHOX2B mutations in congenital central hypoventilation syndrome.

Pediatr Int 2019 Feb 20. Epub 2019 Feb 20.

Department of Pediatrics, Yamagata University School of Medicine, Yamagata City, Japan.

Background: Congenital central hypoventilation syndrome (CCHS) is caused by mutation of paird-like homeobox 2B (PHOX2B). Approximately 90% of patients were found to carry polyalanine repeat expansion mutation (PARM), and the remaining 10% had non-PARM (NPARM). In PARM, the length of the polyalanine expansion correlates with clinical disease severity. Read More

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http://dx.doi.org/10.1111/ped.13812DOI Listing
February 2019
2 Reads

Anatomic Study of the Superior Cluneal Nerve and Its Related Groove on the Iliac Crest.

World Neurosurg 2019 Feb 11. Epub 2019 Feb 11.

Seattle Science Foundation, Seattle, Washington, USA; Department of Anatomical Sciences, St. George's University, Grenada, West Indies.

Objective: Superior cluneal nerve entrapment neuropathy is one cause of low back pain often referred to as "pseudo sciatica." Studies have found that the superior cluneal nerve can arise variably from T11 to L5. The osteofibrous tunnels formed by a groove on the iliac crest might compress the superior cluneal nerve. Read More

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http://dx.doi.org/10.1016/j.wneu.2019.01.210DOI Listing
February 2019
1 Read

[Clinical and Genetic Characteristics of Ocular Developmental Disorders: MAC-Spectrum, Anterior Segment Dysgenesis].

Klin Monbl Augenheilkd 2019 Mar 8;236(3):269-285. Epub 2019 Feb 8.

Klinik für Augenheilkunde, Universitätsklinikum des Saarlandes UKS, Homburg/Saar.

To control the development of the ocular phenotype, several coordinated steps of temporally- and spatially-organized networked triggers (inductions) are necessary. This is regulated at the level of transcription. Crucial here are the so-called master genes or DNA-binding transcription factors PAX6, FOXC1, SOX2, FOXE3, OTX2, PITX2 and PAX2. Read More

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http://dx.doi.org/10.1055/a-0809-5523DOI Listing

Chronic Anterior Uveitis in a Patient with CREST Syndrome.

Reumatol Clin 2019 Jan 25. Epub 2019 Jan 25.

Oftalmología, Hospital Universitario San Agustín, Avilés, Asturias, España.

Systemic sclerosis is a connective tissue pathology with very heterogeneous clinical manifestations, associated in a small percentage with inflammatory eye diseases. In the specific case of uveitis, only isolated cases have been reported in the literature, especially in relation to the CREST syndrome. We present the case of a 53-year-old woman with CREST syndrome and chronic anterior uveitis, which we consider of clinical relevance given its low prevalence. Read More

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http://dx.doi.org/10.1016/j.reuma.2018.10.005DOI Listing
January 2019

Phenotypic analysis of Myo10 knockout (Myo10) mice lacking full-length (motorized) but not brain-specific headless myosin X.

Sci Rep 2019 Jan 24;9(1):597. Epub 2019 Jan 24.

Institut für Molekulare Zellbiologie, Westfälische Wilhelms-Universität Münster, 48149, Münster, Germany.

We investigated the physiological functions of Myo10 (myosin X) using Myo10 reporter knockout (Myo10) mice. Full-length (motorized) Myo10 protein was deleted, but the brain-specific headless (Hdl) isoform (Hdl-Myo10) was still expressed in homozygous mutants. In vitro, we confirmed that Hdl-Myo10 does not induce filopodia, but it strongly localized to the plasma membrane independent of the MyTH4-FERM domain. Read More

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http://dx.doi.org/10.1038/s41598-018-37160-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6345916PMC
January 2019
4 Reads

Botulinum toxin for treatment of Raynaud phenomenon in CREST syndrome.

Dermatol Online J 2018 Dec 15;24(12). Epub 2018 Dec 15.

The Ronald O. Perelman Department of Dermatology, New York University Langone Health, New York, New York Yale University School of Medicine, New Haven, Connecticut.

Calcinosis, Raynaud phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia (CREST) syndrome is a form of a rare, clinical subtype of systemic sclerosis, known as limited systemic sclerosis. Limited systemic sclerosis, including CREST syndrome, manifests as fibrotic skin changes restricted to the hands and face, with vascular, musculoskeletal, and visceral involvement. We present a case of a 75-year-old woman with a longstanding history of CREST syndrome complicated by a digital ulceration and persistent pain associated with recalcitrant Raynaud phenomenon. Read More

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December 2018
83 Reads

Family-based exome sequencing and case-control analysis implicate CEP41 as an ASD gene.

Transl Psychiatry 2019 01 15;9(1). Epub 2019 Jan 15.

Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA.

Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder with a strong genetic component. Although next-generation sequencing (NGS) technologies have been successfully applied to gene identification in de novo ASD, the genetic architecture of familial ASD remains largely unexplored. Our approach, which leverages the high specificity and sensitivity of NGS technology, has focused on rare variants in familial autism. Read More

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http://dx.doi.org/10.1038/s41398-018-0343-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6341097PMC
January 2019
3 Reads

Grisel syndrome presenting as hemiplegia in a patient with multifocal sepsis.

Malawi Med J 2018 06;30(2):127-131

Consultant Trauma and Orthopaedic Surgeon; Dean of Faculty of Medicine, College of Medicine, University of Malawi.

Introduction: Grisel syndrome is a non-traumatic rotary subluxation of C1 on C2 (atlantoaxial subluxation). It is a rare condition predominantly described in paediatric population with previous history of upper respiratory infections orotolaryngeal procedures. The diagnosis is established by the association of clinical and radiologic findings4,6. Read More

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http://dx.doi.org/10.4314/mmj.v30i2.13DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6307069PMC
June 2018
6 Reads

Lineage-specific events underlie aortic root aneurysm pathogenesis in Loeys-Dietz syndrome.

J Clin Invest 2019 02 7;129(2):659-675. Epub 2019 Jan 7.

McKusick-Nathans Institute of Genetic Medicine.

The aortic root is the predominant site for development of aneurysm caused by heterozygous loss-of-function mutations in positive effectors of the transforming growth factor-β (TGF-β) pathway. Using a mouse model of Loeys-Dietz syndrome (LDS) that carries a heterozygous kinase-inactivating mutation in TGF-β receptor I, we found that the effects of this mutation depend on the lineage of origin of vascular smooth muscle cells (VSMCs). Secondary heart field-derived (SHF-derived), but not neighboring cardiac neural crest-derived (CNC-derived), VSMCs showed impaired Smad2/3 activation in response to TGF-β, increased expression of angiotensin II (AngII) type 1 receptor (Agtr1a), enhanced responsiveness to AngII, and higher expression of TGF-β ligands. Read More

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https://www.jci.org/articles/view/123547
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http://dx.doi.org/10.1172/JCI123547DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6355234PMC
February 2019
6 Reads

Insights into retinoic acid deficiency and the induction of craniofacial malformations and microcephaly in fetal alcohol spectrum disorder.

Genesis 2019 01 21;57(1):e23278. Epub 2019 Jan 21.

Department of Developmental Biology and Cancer Research, Institute for Medical Research Israel-Canada, Faculty of Medicine, Hebrew University, Jerusalem, Israel.

Fetal Alcohol Spectrum Disorder (FASD) is a set of neurodevelopmental malformations caused by maternal consumption of alcohol during pregnancy. FASD sentinel facial features are unique to the disorder, and microcephaly is common in severe forms of FASD. Retinoic acid deficiency has been shown to cause craniofacial malformations and microcephaly in animal models reminiscent of those caused by prenatal alcohol exposure. Read More

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http://dx.doi.org/10.1002/dvg.23278DOI Listing
January 2019
4 Reads

Selective advantage of euploid spermatocytes I in an azoospermic 47,XYY man with gonadal mosaicism.

Hum Reprod 2019 Mar;34(3):568-573

2nd. A.U. Cell Biology, Histology, Embryology and Genetics, School of Medicine, University of Buenos Aires.

Although most XYY men have normal sperm counts and are fertile (supposedly due to the loss of the extra Y before meiosis), there is a minority who are infertile. In these cases, the XYY spermatocytes are able to enter meiosis and form different synaptic configurations. With regard to mosaics, there is scarce well-defined information on the presence of the second Y and its meiotic behaviour. Read More

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https://academic.oup.com/humrep/advance-article/doi/10.1093/
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http://dx.doi.org/10.1093/humrep/dey387DOI Listing
March 2019
7 Reads

Identification of Embryonic Neural Plate Border Stem Cells and Their Generation by Direct Reprogramming from Adult Human Blood Cells.

Cell Stem Cell 2019 Jan 20;24(1):166-182.e13. Epub 2018 Dec 20.

Heidelberg Institute for Stem Cell Technology and Experimental Medicine (HI-STEM gGmbH), Im Neuenheimer Feld 280, 69120 Heidelberg, Germany; Division of Stem Cells and Cancer, German Cancer Research Center (DKFZ), and DKFZ-ZMBH Alliance, Im Neuenheimer Feld 280, 69120 Heidelberg, Germany; German Cancer Consortium (DKTK), 69120 Heidelberg, Germany. Electronic address:

We report the direct reprogramming of both adult human fibroblasts and blood cells into induced neural plate border stem cells (iNBSCs) by ectopic expression of four neural transcription factors. Self-renewing, clonal iNBSCs can be robustly expanded in defined media while retaining multilineage differentiation potential. They generate functional cell types of neural crest and CNS lineages and could be used to model a human pain syndrome via gene editing of SCN9A in iNBSCs. Read More

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http://dx.doi.org/10.1016/j.stem.2018.11.015DOI Listing
January 2019
3 Reads

Char Syndrome a novel mutation and new insights: A clinical report.

Eur J Med Genet 2018 Dec 21. Epub 2018 Dec 21.

Medical Genetics Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center, Lebanon; Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, Lebanon. Electronic address:

Transcription Factor AP-2 Beta (TFAP2B) functions in the differentiation of neural crest cell derivatives and contributes to the embryogenesis of the ductus arteriosus. Mutations of TFAP2B produces Char syndrome. Char syndrome is an autosomal dominant disorder comprising facial dysmorphism, hand anomalies, and patent ductus arteriosus (PDA). Read More

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http://dx.doi.org/10.1016/j.ejmg.2018.12.012DOI Listing
December 2018
2 Reads

Waardenburg Syndrome and Left Persistent Superior Vena Cava.

J Clin Imaging Sci 2018 15;8:44. Epub 2018 Nov 15.

Department of Radiology, University of Kentucky, Kentucky, USA.

Waardenburg syndrome (WS) is a rare genetic disorder secondary to neural crest cell developmental abnormalities. It is predominantly described as an auditory-pigmentary syndrome with diverse patient presentation, typically involving congenital sensorineural hearing loss and pigmentation abnormalities of the skin, hair, and iris. Other developmental abnormalities that may be associated with this syndrome are Hirschsprung's disease and a myriad of cardiovascular congenital defects. Read More

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http://www.clinicalimagingscience.org/text.asp?2018/8/1/44/2
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http://dx.doi.org/10.4103/jcis.JCIS_31_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6251238PMC
November 2018
10 Reads

Abnormalities in gray matter microstructure in young adults with 22q11.2 deletion syndrome.

Neuroimage Clin 2019 27;21:101611. Epub 2018 Nov 27.

Department of Psychiatry, Psychiatry Neuroimaging Laboratory, Brigham and Women's Hospital, Harvard Medical School, Zora Kikinis, 1249 Boylston Street, Boston, MA 02215, USA; Department of Radiology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.

Background: 22q11.2 Deletion Syndrome (22q11DS) is a genetic, neurodevelopmental disorder characterized by a chromosomal deletion and a distinct cognitive profile. Although abnormalities in the macrostructure of the cortex have been identified in individuals with 22q11DS, it is not known if there are additional microstructural changes in gray matter regions in this syndrome, and/or if such microstructural changes are associated with cognitive functioning. Read More

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http://dx.doi.org/10.1016/j.nicl.2018.101611DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6411601PMC
November 2018

Cytidine deaminase enables Toll-like receptor 8 activation by cytidine or its analogs.

Int Immunol 2018 Dec 10. Epub 2018 Dec 10.

Division of Innate Immunity, Department of Microbiology and Immunology, Institute of Medical Science, University of Tokyo, Minato-ku, Tokyo, Japan.

Toll-like receptor 8 (TLR8), a sensor for pathogen-derived single-stranded RNA (ssRNA), binds to uridine (Uri) and ssRNA to induce defense responses. We here show that cytidine (Cyd) with ssRNA also activated TLR8 in peripheral blood leukocytes (PBLs) and a myeloid cell line U937, but not in an embryonic kidney cell line 293T. Cyd deaminase (CDA), an enzyme highly expressed in leukocytes, deaminates Cyd to Uri. Read More

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http://dx.doi.org/10.1093/intimm/dxy075DOI Listing
December 2018
2 Reads
2.536 Impact Factor

The genetics of congenital central hypoventilation syndrome: clinical implications.

Appl Clin Genet 2018 15;11:135-144. Epub 2018 Nov 15.

Division of Pediatric Pulmonology and Sleep Medicine, Children's Hospital Los Angeles, Los Angeles, CA, USA,

Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder of the autonomic nervous system (ANS) and respiratory control. This disorder, formerly referred to as Ondine's curse, is due to a mutation in the gene that affects the development of the neural crest cells. CCHS has an autosomal dominant pattern of inheritance. Read More

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http://dx.doi.org/10.2147/TACG.S140629DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6241683PMC
November 2018
5 Reads

A non-canonical JAGGED1 signal to JAK2 mediates osteoblast commitment in cranial neural crest cells.

Cell Signal 2019 Feb 8;54:130-138. Epub 2018 Dec 8.

Department of Otolaryngology, Emory University, Atlanta, GA, USA. Electronic address:

During craniofacial development, cranial neural crest (CNC) cells migrate into the developing face and form bone through intramembranous ossification. Loss of JAGGED1 (JAG1) signaling in the CNC cells is associated with maxillary hypoplasia or maxillary bone deficiency (MBD) in mice and recapitulates the MBD seen in humans with Alagille syndrome. JAGGED1, a membrane-bound NOTCH ligand, is required for normal craniofacial development, and Jagged1 mutations in humans are known to cause Alagille Syndrome, which is associated with cardiac, biliary, and bone phenotypes and these children experience increased bony fractures. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S08986568183030
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http://dx.doi.org/10.1016/j.cellsig.2018.12.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6420215PMC
February 2019
11 Reads

Bilateral Phacomatosis Pigmentovascularis in a Young Male with Developmental Glaucoma and Varicose Veins.

J Curr Glaucoma Pract 2018 May-Aug;12(2):94-98. Epub 2018 Aug 1.

Senior Resident, Guru Nanak Eye Centre, Maulana Azad Medical College, New Delhi, India.

Aim: To report a case of bilateral phacomatosis pigmentovascularis (PPV), in a young male,presenting with developmental glaucoma and high myopia along with systemic features of klippel trenanauy weber (KTW) syndrome.

Background: The co-existence of oculodermal melanocytosis (ODM)and port-wine stain was termed PPV by Ota. Port-wine stain presents as part of Sturge-Weber syndrome (SWS). Read More

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http://www.jaypeejournals.com/eJournals/ShowText.aspx?ID=147
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http://dx.doi.org/10.5005/jp-journals-10008-1251DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6236123PMC
August 2018
15 Reads

Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes.

Eur J Med Genet 2018 Nov 22. Epub 2018 Nov 22.

Department of Genetics, APHP-Robert DEBRE University Hospital, Sorbonne Paris-Cité University, and INSERM UMR 1141, Paris, France. Electronic address:

The SPECC1L protein plays a role in adherens junctions involved in cell adhesion, actin cytoskeleton organization, microtubule stabilization, spindle organization and cytokinesis. It modulates PI3K-AKT signaling and controls cranial neural crest cell delamination during facial morphogenesis. SPECC1L causative variants were first identified in individuals with oblique facial clefts. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S17697212183046
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http://dx.doi.org/10.1016/j.ejmg.2018.11.022DOI Listing
November 2018
18 Reads

Superficial Peroneal Nerve Injury Risk During a Semiblind Fasciotomy for Anterior Chronic Exertional Compartment Syndrome of the Leg: An Anatomical and Clinical Study.

Foot Ankle Int 2019 Mar 22;40(3):343-351. Epub 2018 Nov 22.

1 Department of Surgery, Máxima Medical Center, Veldhoven, the Netherlands.

Background:: Up to 8% of patients who underwent a fasciotomy for leg anterior chronic exertional compartment syndrome (ant-CECS) report sensory deficits suggestive of iatrogenic superficial peroneal nerve (SPN) injury. In the current study we aimed to thoroughly assess the risk of SPN injury during a semiblind fasciotomy of the anterior compartment using 2 separate approaches.

Methods:: A modified semiblind fasciotomy of the anterior compartment was performed via a longitudinal 2-cm skin incision 2 cm lateral of the anterior tibial crest halfway along the line fibular head-lateral malleolus both in cadaver legs and in patients with ant-CECS. Read More

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http://dx.doi.org/10.1177/1071100718811632DOI Listing
March 2019
23 Reads

A Ciliary Protein EVC2/LIMBIN Plays a Critical Role in the Skull Base for Mid-Facial Development.

Front Physiol 2018 25;9:1484. Epub 2018 Oct 25.

Department of Biologic and Materials Sciences, School of Dentistry, University of Michigan, Ann Arbor, MI, United States.

Ellis-van Creveld (EvC) syndrome is an autosomal recessive chondrodysplastic disorder. Affected patients present a wide spectrum of symptoms including short stature, postaxial polydactyly, and dental abnormalities. We previously disrupted , one of the causative genes for EvC syndrome, in mice using a neural crest-specific, -mediated approach (i. Read More

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https://www.frontiersin.org/article/10.3389/fphys.2018.01484
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http://dx.doi.org/10.3389/fphys.2018.01484DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6210651PMC
October 2018
12 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

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0207251PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6224166PMC
April 2019
30 Reads

Locus and allelic heterogeneity and phenotypic variability in Waardenburg syndrome.

Clin Genet 2019 Mar 27;95(3):398-402. Epub 2018 Nov 27.

Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, Karnataka, India.

Waardenburg syndrome (WS) is a disorder of neural crest cell migration characterized by auditory and pigmentary abnormalities. We investigated a cohort of 14 families (16 subjects) either by targeted sequencing or whole-exome sequencing. Thirteen of these families were clinically diagnosed with WS and one family with isolated non-syndromic hearing loss (NSHL). Read More

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http://doi.wiley.com/10.1111/cge.13468
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http://dx.doi.org/10.1111/cge.13468DOI Listing
March 2019
18 Reads
3.931 Impact Factor

Altered bone growth dynamics prefigure craniosynostosis in a zebrafish model of Saethre-Chotzen syndrome.

Elife 2018 10 25;7. Epub 2018 Oct 25.

Department of Stem Cell Biology and Regenerative Medicine, University of Southern California, Los Angeles, United States.

Cranial sutures separate the skull bones and house stem cells for bone growth and repair. In Saethre-Chotzen syndrome, mutations in or ablate a specific suture, the coronal. This suture forms at a neural-crest/mesoderm interface in mammals and a mesoderm/mesoderm interface in zebrafish. Read More

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https://elifesciences.org/articles/37024
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http://dx.doi.org/10.7554/eLife.37024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6207424PMC
October 2018
26 Reads

A Novel Human Pluripotent Stem Cell-Derived Neural Crest Model of Treacher Collins Syndrome Shows Defects in Cell Death and Migration.

Stem Cells Dev 2019 Jan 18;28(2):81-100. Epub 2018 Dec 18.

1 Anne McLaren Laboratory, Wellcome Trust-Medical Research Council Cambridge Stem Cell Institute, Department of Medicine, University of Cambridge, Cambridge, United Kingdom.

The neural crest (NC) is a transient multipotent cell population present during embryonic development. The NC can give rise to multiple cell types and is involved in a number of different diseases. Therefore, the development of new strategies to model NC in vitro enables investigations into the mechanisms involved in NC development and disease. Read More

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https://www.liebertpub.com/doi/10.1089/scd.2017.0234
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http://dx.doi.org/10.1089/scd.2017.0234DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6350417PMC
January 2019
20 Reads

Using human sequencing to guide craniofacial research.

Genesis 2019 01 21;57(1):e23259. Epub 2018 Dec 21.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio, 45229.

A recent convergence of technological innovations has re-energized the ability to apply genetics to research in human craniofacial development. Next-generation exome and whole genome sequencing have significantly dropped in price, making it relatively trivial to sequence and analyze patients and families with congenital craniofacial anomalies. A concurrent revolution in genome editing with the use of the CRISPR-Cas9 system enables the rapid generation of animal models, including mouse, which can precisely recapitulate human variants. Read More

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http://doi.wiley.com/10.1002/dvg.23259
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http://dx.doi.org/10.1002/dvg.23259DOI Listing
January 2019
3 Reads

Using patient-derived iPSCs to develop humanized mouse models for chronic myelomonocytic leukemia and therapeutic drug identification, including liposomal clodronate.

Sci Rep 2018 Oct 26;8(1):15855. Epub 2018 Oct 26.

Department of Hematology and Oncology, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo, 113-8655, Japan.

Chronic myelomonocytic leukemia (CMML) is an entity of myelodysplastic syndrome/myeloproliferative neoplasm. Although CMML can be cured with allogeneic stem cell transplantation, its prognosis is generally very poor due to the limited efficacy of chemotherapy and to the patient's age, which is usually not eligible for transplantation. Comprehensive analysis of CMML pathophysiology and the development of therapeutic agents have been limited partly due to the lack of cell lines in CMML and the limited developments of mouse models. Read More

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http://www.nature.com/articles/s41598-018-34193-1
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http://dx.doi.org/10.1038/s41598-018-34193-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6203784PMC
October 2018
8 Reads

PBC and related extrahepatic diseases.

Best Pract Res Clin Gastroenterol 2018 Jun - Aug;34-35:49-54. Epub 2018 May 23.

Dept. of Surgery, Oncology and Gastroenterology, University of Padova, Italy.

Patients with PBC have at least 60% of probability to have an autoimmune extrahepatic condition. The pathogenesis of these conditions includes a common mechanism involving both innate and adaptive immune responses targeting cholangiocytes and different extrahepatic tissues. The recent EASL guidelines recommend the management of these conditions, although detailed practical treatments have not been indicated. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S15216918183000
Publisher Site
http://dx.doi.org/10.1016/j.bpg.2018.05.013DOI Listing
December 2018
22 Reads

Hematopoietic and neural crest defects in zebrafish shoc2 mutants: a novel vertebrate model for Noonan-like syndrome.

Hum Mol Genet 2019 02;28(3):501-514

Department of Molecular and Cellular Biochemistry, University of Kentucky, Lexington, KY, USA.

The extracellular signal-related kinase 1 and 2 (ERK1/2) pathway is a highly conserved signaling cascade with numerous essential functions in development. The scaffold protein Shoc2 amplifies the activity of the ERK1/2 pathway and is an essential modulator of a variety of signaling inputs. Germline mutations in Shoc2 are associated with the human developmental disease known as the Noonan-like syndrome with loose anagen hair. Read More

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https://academic.oup.com/hmg/advance-article/doi/10.1093/hmg
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http://dx.doi.org/10.1093/hmg/ddy366DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6337701PMC
February 2019
1 Read
6.393 Impact Factor

A novel PAX3 mutation in a Korean patient with Waardenburg syndrome type 1 and unilateral branch retinal vein and artery occlusion: a case report.

BMC Ophthalmol 2018 Oct 11;18(1):266. Epub 2018 Oct 11.

Department of Ophthalmology, The Institute of Vision Research, Gangnam Severance Hospital, Yonsei University College of Medicine, 211, Eonjuro, Gangnam-gu, Seoul, 06273, Korea.

Background: Waardenburg syndrome (WS) is a very rare genetic disorder affecting the neural crest cells. Coexistence of branch retinal vein occlusion (BRVO) and branch retinal artery occlusion (BRAO) in the same eye is also a rare finding. Here we report a case of WS type 1 that was confirmed by a novel mutation with the finding of unilateral BRVO and BRAO. Read More

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https://bmcophthalmol.biomedcentral.com/articles/10.1186/s12
Publisher Site
http://dx.doi.org/10.1186/s12886-018-0933-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6186106PMC
October 2018
13 Reads

A rare case of paraganglioma of the cystic duct.

Int J Surg Case Rep 2018 1;52:16-19. Epub 2018 Oct 1.

Department of Endocrine Surgery, Cleveland Clinic, 9500 Euclid Ave., Cleveland, Ohio, 44195, United States.

Introduction: Biliary system paragangliomas are rare neuroendocrine tumors of embryonic neural crest origin. The majority is asymptomatic and incidentally found due to gallbladder functional disorders. Herein, we present a non-functional, 2. Read More

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http://dx.doi.org/10.1016/j.ijscr.2018.09.041DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6175743PMC
October 2018
3 Reads

Loss of Tbx3 in murine neural crest reduces enteric glia and causes cleft palate, but does not influence heart development or bowel transit.

Dev Biol 2018 Dec 5;444 Suppl 1:S337-S351. Epub 2018 Oct 5.

The Children's Hospital of Philadelphia Research Institute, 3615 Civic Center Blvd, Abramson Research Center - Suite # 1116I, Philadelphia, PA 19104-4318, United States; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104-4318, United States. Electronic address:

Transcription factors that coordinate migration, differentiation or proliferation of enteric nervous system (ENS) precursors are not well defined. To identify novel transcriptional regulators of ENS development, we performed microarray analysis at embryonic day (E) 17.5 and identified many genes that were enriched in the ENS compared to other bowel cells. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00121606183023
Publisher Site
http://dx.doi.org/10.1016/j.ydbio.2018.09.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6431575PMC
December 2018
17 Reads

FoxO6 regulates Hippo signaling and growth of the craniofacial complex.

PLoS Genet 2018 10 4;14(10):e1007675. Epub 2018 Oct 4.

Department of Anatomy and Cell Biology, and the Craniofacial Anomalies Research Center, Carver College of Medicine, The University of Iowa, Iowa City, IA, United States of America.

The mechanisms that regulate post-natal growth of the craniofacial complex and that ultimately determine the size and shape of our faces are not well understood. Hippo signaling is a general mechanism to control tissue growth and organ size, and although it is known that Hippo signaling functions in neural crest specification and patterning during embryogenesis and before birth, its specific role in postnatal craniofacial growth remains elusive. We have identified the transcription factor FoxO6 as an activator of Hippo signaling regulating neonatal growth of the face. Read More

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http://dx.plos.org/10.1371/journal.pgen.1007675
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http://dx.doi.org/10.1371/journal.pgen.1007675DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6197693PMC
October 2018
19 Reads

Melanotic Schwannoma of Spine: Illustration of Two Cases with Diverse Clinical Presentation and Outcome.

Asian J Neurosurg 2018 Jul-Sep;13(3):881-884

Department of Pathology, Government Medical College, Thiruvananthapuram, Kerala, India.

Melanotic schwannomas (MS) are rare variants of schwannomas the occurrence of which is described in case reports only. They usually arise from posterior spinal nerve roots and less commonly from other cells of neural crest origin. Although they are relatively benign tumors in young, aggressive behavior is reported. Read More

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http://dx.doi.org/10.4103/ajns.AJNS_353_16DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6159093PMC
October 2018
6 Reads

[Precision diagnosis and treatment for Treacher Collins syndrome:preclinical perspectives].

Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi 2018 Aug;32(16):1207-1212

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http://dx.doi.org/10.13201/j.issn.1001-1781.2018.16.001DOI Listing

A Rare Cause of Leg Ulcer: Calcinosis Cutis as a Part of CREST Syndrome.

Int J Low Extrem Wounds 2018 Dec 1;17(4):282-284. Epub 2018 Oct 1.

1 Department of Dermatology, Kocaeli University School of Medicine, Kocaeli, Turkey.

Leg ulcers are not a disease themselves, they are a symptom of a disease. To manage them properly, finding the correct diagnosis of the disease is mandatory. Our case is a model to underline that leg ulcers are a significant burden for the patient, because leg ulcer got ahead of the patient's other serious complaints such as Raynaud's phenomenon or sclerodactyly. Read More

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http://journals.sagepub.com/doi/10.1177/1534734618799576
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http://dx.doi.org/10.1177/1534734618799576DOI Listing
December 2018
1 Read

Defective Vagal Innervation in Murine Mutant Hearts.

J Cardiovasc Dev Dis 2018 Sep 23;5(4). Epub 2018 Sep 23.

UCL Great Ormond Street-Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK.

Haploinsufficiency of the T-box transcription factor is responsible for many features of 22q11.2 deletion syndrome. is expressed dynamically in the pharyngeal apparatus during mouse development and homozygous mutants display numerous severe defects including abnormal cranial ganglion formation and neural crest cell defects. Read More

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http://dx.doi.org/10.3390/jcdd5040049DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6306933PMC
September 2018
14 Reads

Molecular dissection of CHARGE syndrome highlights the vulnerability of neural crest cells to problems with alternative splicing and other transcription-related processes.

Transcription 2019 02 20;10(1):21-28. Epub 2018 Sep 20.

a Laboratoire de génétique moléculaire du développement, Département des sciences biologiques , Université du Québec à Montréal (UQAM) , Montréal , QC , Canada.

CHARGE syndrome is characterized by co-occurrence of multiple malformations due to abnormal development of neural crest cells. Here, we review the phenotypic and molecular overlap between CHARGE syndrome and similar pathologies, and further discuss the observation that neural crest cells appear especially sensitive to malfunction of the chromatin-transcription-splicing molecular hub. Read More

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http://dx.doi.org/10.1080/21541264.2018.1521213DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6351119PMC
February 2019
1 Read

Etiology and Pathogenesis of Hemifacial Microsomia.

J Dent Res 2018 Nov 11;97(12):1297-1305. Epub 2018 Sep 11.

1 Department of Oral and Craniomaxillofacial Surgery, Shanghai Ninth People's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.

Hemifacial microsomia (HFM) is a common congenital malformation of the craniofacial region. There are 3 possible pathogenic models of HFM-vascular abnormality and hemorrhage in the craniofacial region, damage to Meckel's cartilage, and the abnormal development of cranial neural crest cells-and the most plausible hypothesis is the vascular abnormality and hemorrhage model. These 3 models are interrelated, and none of them is completely concordant with all the variable manifestations of HFM. Read More

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http://journals.sagepub.com/doi/10.1177/0022034518795609
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http://dx.doi.org/10.1177/0022034518795609DOI Listing
November 2018
7 Reads