Network Of Clinical Research Studies On Craniosynostosis, Skull Malformations With Premature Fusion Of Skull Bones
NCT ID: NCT03025763
Last Updated: 2025-01-02
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.
ACTIVE_NOT_RECRUITING
2145 participants
OBSERVATIONAL
2015-01-13
2028-01-31
Brief Summary
Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.
Related Clinical Trials
Explore similar clinical trials based on study characteristics and research focus.
Craniofacial Imaging With 3D MRI: an Alternative to Ionising Radiation
NCT04695938
Neurodevelopmental Outcomes in Craniosynostosis Repair
NCT04072783
Ophtalmological Characteristics of Patients With Craniosynostosis Followed at the Amiens University Hospital
NCT06928727
MRI for Non-invasive Evaluation of Brain Stress
NCT01898650
Investigation of Anthropometric Properties of Babies With Craniosynostosis
NCT04827524
Detailed Description
Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.
This study is a multi-center, open-enrollment, retrospective study, employing both family-based and case-control study designs.
Approximately 4000 cNSC patients, their family members, and controls will be recruited by Icahn School of Medicine at Mount Sinai and the majority will be recruited from the more than 10 collaborating institutions worldwide.
Conditions
See the medical conditions and disease areas that this research is targeting or investigating.
Study Design
Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.
OTHER
OTHER
Study Groups
Review each arm or cohort in the study, along with the interventions and objectives associated with them.
Coronal Nonsyndromic Craniosynostosis, trios
Participants with diagnosis of coronal, nonsyndromic craniosynostosis including affected and unaffected biological parents
Craniosynostosis Network Environmental Survey
Questionnaire is administered to the mothers of affected participants regarding medical history and environmental exposures during pregnancy, delivery, and neonatal period. Optional.
2D/3D Photography
Full frontal and lateral face and other parts of the body may be taken for dysmorphic assessment. There is the risk of identification and loss of confidentiality. Optional.
Buccal Swab Cell Sampling
One or more swabs, like a Q-tip (for children), or saliva collection kit (for adults) will be used to collect buccal cells. With a swab, they will brush the inside of the mouth several times. With saliva collection kit, they will collect their saliva by spitting into a container several times using a commercially available saliva collection kit. Required.
Blood sampling
Venipuncture so that one teaspoon to tablespoons (1-20 ml.) of blood is collected. The volume drawn will be dependent on the age and size of the child. Minimal amounts may be required for DNA, but to establish a lymphoblastoid or iPS cell line at least 3 to 10 ml will be required independent of age. In the case of an infant, if 3 to 10 ml cannot be obtained, then a lymphoblastoid or iPS cell line will not be created. Optional.
Skin Biopsy
For those who do not undergo surgery or the skin removal is not considered part of the surgical procedure. After proper cleaning, a piece of skin the size of a pencil eraser (about 4 mm or 1/8 inch in diameter) will be removed (using a circular blade or scalpel) from the arm (inside of arm or forearm in a spot that is as unnoticeable as possible). This area will be covered with a Band-Aid. No stitches are usually required. A crust will form and eventually fall off. Optional.
Tissues from a Clinically Indicated Procedure
In some instances when there is discarded tissues and specimens (including skin and bone at the time of reconstructive craniofacial surgery), they will be collected by making arrangements with their physicians. Some of these tissues will be used to generate cell lines. Optional.
Pre-operative CT Scan Image Files.
Optional for those who had a previous CT scan for a prior traumatic event.
Coronal, nonsyndromic craniosynostosis
Participants with coronal, nonsyndromic craniosynostosis when biological parents are not available
Craniosynostosis Network Environmental Survey
Questionnaire is administered to the mothers of affected participants regarding medical history and environmental exposures during pregnancy, delivery, and neonatal period. Optional.
2D/3D Photography
Full frontal and lateral face and other parts of the body may be taken for dysmorphic assessment. There is the risk of identification and loss of confidentiality. Optional.
Buccal Swab Cell Sampling
One or more swabs, like a Q-tip (for children), or saliva collection kit (for adults) will be used to collect buccal cells. With a swab, they will brush the inside of the mouth several times. With saliva collection kit, they will collect their saliva by spitting into a container several times using a commercially available saliva collection kit. Required.
Blood sampling
Venipuncture so that one teaspoon to tablespoons (1-20 ml.) of blood is collected. The volume drawn will be dependent on the age and size of the child. Minimal amounts may be required for DNA, but to establish a lymphoblastoid or iPS cell line at least 3 to 10 ml will be required independent of age. In the case of an infant, if 3 to 10 ml cannot be obtained, then a lymphoblastoid or iPS cell line will not be created. Optional.
Skin Biopsy
For those who do not undergo surgery or the skin removal is not considered part of the surgical procedure. After proper cleaning, a piece of skin the size of a pencil eraser (about 4 mm or 1/8 inch in diameter) will be removed (using a circular blade or scalpel) from the arm (inside of arm or forearm in a spot that is as unnoticeable as possible). This area will be covered with a Band-Aid. No stitches are usually required. A crust will form and eventually fall off. Optional.
Tissues from a Clinically Indicated Procedure
In some instances when there is discarded tissues and specimens (including skin and bone at the time of reconstructive craniofacial surgery), they will be collected by making arrangements with their physicians. Some of these tissues will be used to generate cell lines. Optional.
Pre-operative CT Scan Image Files.
Optional for those who had a previous CT scan for a prior traumatic event.
Unaffected controls
Unaffected controls who may have undergone clinically indicated craniofacial surgery for trauma or conditions other than craniosynostosis or bone disease
Craniosynostosis Network Environmental Survey
Questionnaire is administered to the mothers of affected participants regarding medical history and environmental exposures during pregnancy, delivery, and neonatal period. Optional.
2D/3D Photography
Full frontal and lateral face and other parts of the body may be taken for dysmorphic assessment. There is the risk of identification and loss of confidentiality. Optional.
Buccal Swab Cell Sampling
One or more swabs, like a Q-tip (for children), or saliva collection kit (for adults) will be used to collect buccal cells. With a swab, they will brush the inside of the mouth several times. With saliva collection kit, they will collect their saliva by spitting into a container several times using a commercially available saliva collection kit. Required.
Blood sampling
Venipuncture so that one teaspoon to tablespoons (1-20 ml.) of blood is collected. The volume drawn will be dependent on the age and size of the child. Minimal amounts may be required for DNA, but to establish a lymphoblastoid or iPS cell line at least 3 to 10 ml will be required independent of age. In the case of an infant, if 3 to 10 ml cannot be obtained, then a lymphoblastoid or iPS cell line will not be created. Optional.
Skin Biopsy
For those who do not undergo surgery or the skin removal is not considered part of the surgical procedure. After proper cleaning, a piece of skin the size of a pencil eraser (about 4 mm or 1/8 inch in diameter) will be removed (using a circular blade or scalpel) from the arm (inside of arm or forearm in a spot that is as unnoticeable as possible). This area will be covered with a Band-Aid. No stitches are usually required. A crust will form and eventually fall off. Optional.
Tissues from a Clinically Indicated Procedure
In some instances when there is discarded tissues and specimens (including skin and bone at the time of reconstructive craniofacial surgery), they will be collected by making arrangements with their physicians. Some of these tissues will be used to generate cell lines. Optional.
Pre-operative CT Scan Image Files.
Optional for those who had a previous CT scan for a prior traumatic event.
Interventions
Learn about the drugs, procedures, or behavioral strategies being tested and how they are applied within this trial.
Craniosynostosis Network Environmental Survey
Questionnaire is administered to the mothers of affected participants regarding medical history and environmental exposures during pregnancy, delivery, and neonatal period. Optional.
2D/3D Photography
Full frontal and lateral face and other parts of the body may be taken for dysmorphic assessment. There is the risk of identification and loss of confidentiality. Optional.
Buccal Swab Cell Sampling
One or more swabs, like a Q-tip (for children), or saliva collection kit (for adults) will be used to collect buccal cells. With a swab, they will brush the inside of the mouth several times. With saliva collection kit, they will collect their saliva by spitting into a container several times using a commercially available saliva collection kit. Required.
Blood sampling
Venipuncture so that one teaspoon to tablespoons (1-20 ml.) of blood is collected. The volume drawn will be dependent on the age and size of the child. Minimal amounts may be required for DNA, but to establish a lymphoblastoid or iPS cell line at least 3 to 10 ml will be required independent of age. In the case of an infant, if 3 to 10 ml cannot be obtained, then a lymphoblastoid or iPS cell line will not be created. Optional.
Skin Biopsy
For those who do not undergo surgery or the skin removal is not considered part of the surgical procedure. After proper cleaning, a piece of skin the size of a pencil eraser (about 4 mm or 1/8 inch in diameter) will be removed (using a circular blade or scalpel) from the arm (inside of arm or forearm in a spot that is as unnoticeable as possible). This area will be covered with a Band-Aid. No stitches are usually required. A crust will form and eventually fall off. Optional.
Tissues from a Clinically Indicated Procedure
In some instances when there is discarded tissues and specimens (including skin and bone at the time of reconstructive craniofacial surgery), they will be collected by making arrangements with their physicians. Some of these tissues will be used to generate cell lines. Optional.
Pre-operative CT Scan Image Files.
Optional for those who had a previous CT scan for a prior traumatic event.
Eligibility Criteria
Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.
Inclusion Criteria
* Unaffected relatives of cases
* Unaffected controls including those who may have undergone clinically indicated craniofacial surgery for trauma or conditions other than craniosynostosis or bone disease. These individuals will be recruited at some of the other collaborating institutions, but not at Mount Sinai.
Individuals of any racial or ethnic group with the established or suspected clinical diagnosis of coronal, nonsyndromic craniosynostosis will be included in this study. Unaffected relatives, such as their biological parents and/or sibs, will also be included to contribute medical information and samples as negative controls for our study.
Exclusion Criteria
* Those who do not meet the criteria.
* Other than children, no vulnerable individuals will be recruited, such as intellectual impaired individuals or prisoners.
80 Years
ALL
Yes
Sponsors
Meet the organizations funding or collaborating on the study and learn about their roles.
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
NIH
Icahn School of Medicine at Mount Sinai
OTHER
Responsible Party
Identify the individual or organization who holds primary responsibility for the study information submitted to regulators.
Ethylin Wang Jabs
Professor
Principal Investigators
Learn about the lead researchers overseeing the trial and their institutional affiliations.
Ethylin Wang Jabs, MD
Role: PRINCIPAL_INVESTIGATOR
Icahn School of Medicine at Mount Sinai
Inga Peter, PhD
Role: PRINCIPAL_INVESTIGATOR
Icahn School of Medicine at Mount Sinai
Locations
Explore where the study is taking place and check the recruitment status at each participating site.
The International Craniosynostosis Consortium at University of California at Davis
Davis, California, United States
Yale University
Hartford, Connecticut, United States
Ann & Robert H. Lurie Children's Hospital of Chicago
Chicago, Illinois, United States
National Birth Defects Prevention Study at University of Iowa
Iowa City, Iowa, United States
Johns Hopkins University
Baltimore, Maryland, United States
Boston Children's Hospital
Boston, Massachusetts, United States
Birth Defect Registries of New York State
Albany, New York, United States
New York University
New York, New York, United States
Icahn School of Medicine at Mount Sinai
New York, New York, United States
Pennsylvania State Milton S. Hershey Medical Center
Hershey, Pennsylvania, United States
Pennsylvania State University
University Park, Pennsylvania, United States
Seton Family of Hospitals
Austin, Texas, United States
Medical City Children's Hospital
Dallas, Texas, United States
University of Texas at Southwestern
Dallas, Texas, United States
University of Utah
Salt Lake City, Utah, United States
University of Bordeaux
Talence, Aquitaine, France
INSERM/ Hospital Necker-Enfants Malades
Paris, Cedex 14, France
University Hospital Heidelberg
Heidelberg, , Germany
Hospital Sant Joan de Deu
Barcelona, Esplugues de Llobregat, Spain
Oxford University
Oxford, Oxfordshire, United Kingdom
Countries
Review the countries where the study has at least one active or historical site.
References
Explore related publications, articles, or registry entries linked to this study.
Heuze Y, Holmes G, Peter I, Richtsmeier JT, Jabs EW. Closing the Gap: Genetic and Genomic Continuum from Syndromic to Nonsyndromic Craniosynostoses. Curr Genet Med Rep. 2014 Sep 1;2(3):135-145. doi: 10.1007/s40142-014-0042-x.
Heuze Y, Singh N, Basilico C, Jabs EW, Holmes G, Richtsmeier JT. Morphological comparison of the craniofacial phenotypes of mouse models expressing the Apert FGFR2 S252W mutation in neural crest- or mesoderm-derived tissues. Bone. 2014 Jun;63:101-9. doi: 10.1016/j.bone.2014.03.003. Epub 2014 Mar 13.
Heuze Y, Martinez-Abadias N, Stella JM, Arnaud E, Collet C, Garcia Fructuoso G, Alamar M, Lo LJ, Boyadjiev SA, Di Rocco F, Richtsmeier JT. Quantification of facial skeletal shape variation in fibroblast growth factor receptor-related craniosynostosis syndromes. Birth Defects Res A Clin Mol Teratol. 2014 Apr;100(4):250-9. doi: 10.1002/bdra.23228. Epub 2014 Feb 27.
Di Rocco F, Biosse Duplan M, Heuze Y, Kaci N, Komla-Ebri D, Munnich A, Mugniery E, Benoist-Lasselin C, Legeai-Mallet L. FGFR3 mutation causes abnormal membranous ossification in achondroplasia. Hum Mol Genet. 2014 Jun 1;23(11):2914-25. doi: 10.1093/hmg/ddu004. Epub 2014 Jan 12.
Justice CM, Yagnik G, Kim Y, Peter I, Jabs EW, Erazo M, Ye X, Ainehsazan E, Shi L, Cunningham ML, Kimonis V, Roscioli T, Wall SA, Wilkie AO, Stoler J, Richtsmeier JT, Heuze Y, Sanchez-Lara PA, Buckley MF, Druschel CM, Mills JL, Caggana M, Romitti PA, Kay DM, Senders C, Taub PJ, Klein OD, Boggan J, Zwienenberg-Lee M, Naydenov C, Kim J, Wilson AF, Boyadjiev SA. A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9. Nat Genet. 2012 Dec;44(12):1360-4. doi: 10.1038/ng.2463. Epub 2012 Nov 18.
Heuze Y, Martinez-Abadias N, Stella JM, Senders CW, Boyadjiev SA, Lo LJ, Richtsmeier JT. Unilateral and bilateral expression of a quantitative trait: asymmetry and symmetry in coronal craniosynostosis. J Exp Zool B Mol Dev Evol. 2012 Mar;318(2):109-22. doi: 10.1002/jezb.21449.
Martinez-Abadias N, Heuze Y, Wang Y, Jabs EW, Aldridge K, Richtsmeier JT. FGF/FGFR signaling coordinates skull development by modulating magnitude of morphological integration: evidence from Apert syndrome mouse models. PLoS One. 2011;6(10):e26425. doi: 10.1371/journal.pone.0026425. Epub 2011 Oct 28.
Heuze Y, Boyadjiev SA, Marsh JL, Kane AA, Cherkez E, Boggan JE, Richtsmeier JT. New insights into the relationship between suture closure and craniofacial dysmorphology in sagittal nonsyndromic craniosynostosis. J Anat. 2010 Aug;217(2):85-96. doi: 10.1111/j.1469-7580.2010.01258.x. Epub 2010 Jun 22.
Wang Y, Sun M, Uhlhorn VL, Zhou X, Peter I, Martinez-Abadias N, Hill CA, Percival CJ, Richtsmeier JT, Huso DL, Jabs EW. Activation of p38 MAPK pathway in the skull abnormalities of Apert syndrome Fgfr2(+P253R) mice. BMC Dev Biol. 2010 Feb 22;10:22. doi: 10.1186/1471-213X-10-22.
Percival CJ, Kawasaki K, Huang Y, Weiss KM, Jabs EW, Li R, Richtsmeier JT. Building Bones. Percival CJ, Richtsmeier JT, editors. Cambridge. Cambridge University Press; 2017. Chapter 2, The contribution of angiogenesis to variation in bone development and evolution; 26-51p.
Kawasaki K, Richtsmeier JT. Building Bones. Percival CJ, Richtsmeier JT, editors. Cambridge. Cambridge University Press; 2017. Chapter 3, Association of the chondrocranium and dermatocranium in early skull development; 52-78p.
Kawasaki K, Richtsmeier J. Building Bones. Percival CJ, Richtsmeier JT, editors. Cambridge. Cambridge University Press; 2017. Chapter Appendix, Appendix to Chapter 3 ; 303-315p.
Singh N, Dutka T, Reeves RH, Richtsmeier JT. Chronic up-regulation of sonic hedgehog has little effect on postnatal craniofacial morphology of euploid and trisomic mice. Dev Dyn. 2016 Feb;245(2):114-22. doi: 10.1002/dvdy.24361. Epub 2015 Dec 6.
Trainor PA, Richtsmeier JT. Facing up to the challenges of advancing Craniofacial Research. Am J Med Genet A. 2015 Jul;167(7):1451-4. doi: 10.1002/ajmg.a.37065. Epub 2015 Mar 28.
Wilkie AOM, Johnson D, Wall SA. Clinical genetics of craniosynostosis. Curr Opin Pediatr. 2017 Dec;29(6):622-628. doi: 10.1097/MOP.0000000000000542.
Richtsmeier JT, Jones MC, Lozanoff S, Trainor PA. The Society for Craniofacial Genetics and Developmental Biology 37th annual meeting. Am J Med Genet A. 2015 Jul;167(7):1455-73. doi: 10.1002/ajmg.a.37012. Epub 2015 Mar 30. No abstract available.
Singh N, Dutka T, Devenney BM, Kawasaki K, Reeves RH, Richtsmeier JT. Acute upregulation of hedgehog signaling in mice causes differential effects on cranial morphology. Dis Model Mech. 2015 Mar;8(3):271-9. doi: 10.1242/dmm.017889. Epub 2014 Dec 24.
Flaherty K, Singh N, Richtsmeier JT. Understanding craniosynostosis as a growth disorder. Wiley Interdiscip Rev Dev Biol. 2016 Jul;5(4):429-59. doi: 10.1002/wdev.227. Epub 2016 Mar 22.
Ye X, Guilmatre A, Reva B, Peter I, Heuze Y, Richtsmeier JT, Fox DJ, Goedken RJ, Jabs EW, Romitti PA. Mutation Screening of Candidate Genes in Patients with Nonsyndromic Sagittal Craniosynostosis. Plast Reconstr Surg. 2016 Mar;137(3):952-961. doi: 10.1097/01.prs.0000479978.75545.ee.
Musy M, Flaherty K, Raspopovic J, Robert-Moreno A, Richtsmeier JT, Sharpe J. A quantitative method for staging mouse embryos based on limb morphometry. Development. 2018 Apr 5;145(7):dev154856. doi: 10.1242/dev.154856.
Heuze Y, Kawasaki K, Schwarz T, Schoenebeck JJ, Richtsmeier JT. Developmental and Evolutionary Significance of the Zygomatic Bone. Anat Rec (Hoboken). 2016 Dec;299(12):1616-1630. doi: 10.1002/ar.23449.
Motch Perrine SM, Stecko T, Neuberger T, Jabs EW, Ryan TM, Richtsmeier JT. Integration of Brain and Skull in Prenatal Mouse Models of Apert and Crouzon Syndromes. Front Hum Neurosci. 2017 Jul 25;11:369. doi: 10.3389/fnhum.2017.00369. eCollection 2017.
Lee C, Richtsmeier JT, Kraft RH. A COMPUTATIONAL ANALYSIS OF BONE FORMATION IN THE CRANIAL VAULT USING A COUPLED REACTION-DIFFUSION-STRAIN MODEL. J Mech Med Biol. 2017 Jun;17(4):1750073. doi: 10.1142/S0219519417500737. Epub 2017 May 29.
Lesciotto KM, Heuze Y, Jabs EW, Bernstein JM, Richtsmeier JT. Choanal Atresia and Craniosynostosis: Development and Disease. Plast Reconstr Surg. 2018 Jan;141(1):156-168. doi: 10.1097/PRS.0000000000003928.
Motch Perrine SM, Wu M, Stephens NB, Kriti D, van Bakel H, Jabs EW, Richtsmeier JT. Mandibular dysmorphology due to abnormal embryonic osteogenesis in FGFR2-related craniosynostosis mice. Dis Model Mech. 2019 May 30;12(5):dmm038513. doi: 10.1242/dmm.038513.
Norwood JN, Zhang Q, Card D, Craine A, Ryan TM, Drew PJ. Anatomical basis and physiological role of cerebrospinal fluid transport through the murine cribriform plate. Elife. 2019 May 7;8:e44278. doi: 10.7554/eLife.44278.
Lee C, Richtsmeier JT, Kraft RH. A coupled reaction-diffusion-strain model predicts cranial vault formation in development and disease. Biomech Model Mechanobiol. 2019 Aug;18(4):1197-1211. doi: 10.1007/s10237-019-01139-z. Epub 2019 Apr 20.
Sewda A, White SR, Erazo M, Hao K, Garcia-Fructuoso G, Fernandez-Rodriguez I, Heuze Y, Richtsmeier JT, Romitti PA, Reva B, Jabs EW, Peter I. Nonsyndromic craniosynostosis: novel coding variants. Pediatr Res. 2019 Mar;85(4):463-468. doi: 10.1038/s41390-019-0274-2. Epub 2019 Jan 14.
Lesciotto KM, Richtsmeier JT. Craniofacial skeletal response to encephalization: How do we know what we think we know? Am J Phys Anthropol. 2019 Jan;168 Suppl 67(Suppl 67):27-46. doi: 10.1002/ajpa.23766.
Flaherty K, Richtsmeier JT. It's about Time: Ossification Center Formation in C57BL/6 Mice from E12(-)E16. J Dev Biol. 2018 Dec 15;6(4):31. doi: 10.3390/jdb6040031.
Holmes G, O'Rourke C, Motch Perrine SM, Lu N, van Bakel H, Richtsmeier JT, Jabs EW. Midface and upper airway dysgenesis in FGFR2-related craniosynostosis involves multiple tissue-specific and cell cycle effects. Development. 2018 Oct 5;145(19):dev166488. doi: 10.1242/dev.166488.
Martinez-Abadias N, Mateu Estivill R, Sastre Tomas J, Motch Perrine S, Yoon M, Robert-Moreno A, Swoger J, Russo L, Kawasaki K, Richtsmeier J, Sharpe J. Quantification of gene expression patterns to reveal the origins of abnormal morphogenesis. Elife. 2018 Sep 20;7:e36405. doi: 10.7554/eLife.36405.
Holmes G, Zhang L, Rivera J, Murphy R, Assouline C, Sullivan L, Oppeneer T, Jabs EW. C-type natriuretic peptide analog treatment of craniosynostosis in a Crouzon syndrome mouse model. PLoS One. 2018 Jul 26;13(7):e0201492. doi: 10.1371/journal.pone.0201492. eCollection 2018.
Richtsmeier JT. A century of development. Am J Phys Anthropol. 2018 Apr;165(4):726-740. doi: 10.1002/ajpa.23379. No abstract available.
Starbuck JM, Cole TM 3rd, Reeves RH, Richtsmeier JT. The Influence of trisomy 21 on facial form and variability. Am J Med Genet A. 2017 Nov;173(11):2861-2872. doi: 10.1002/ajmg.a.38464. Epub 2017 Sep 21.
Weiss K, Buchanan A, Richtsmeier J. How are we made?: Even well-controlled experiments show the complexity of our traits. Evol Anthropol. 2015 Jul-Aug;24(4):130-6. doi: 10.1002/evan.21454. No abstract available.
Lee C, Richtsmeier JT, Kraft RH. A computational analysis of bone formation in the cranial vault in the mouse. Front Bioeng Biotechnol. 2015 Mar 19;3:24. doi: 10.3389/fbioe.2015.00024. eCollection 2015.
Pitirri MK, Richtsmeier JT, Kawasaki M, Coupe AP, Perrine SM, Kawasaki K. Come together over me: Cells that form the dermatocranium and chondrocranium in mice. Anat Rec (Hoboken). 2025 Jul;308(7):1972-1993. doi: 10.1002/ar.25295. Epub 2023 Jul 27.
Lesciotto KM, Tomlinson L, Leonard S, Richtsmeier JT. Embryonic and early postnatal cranial bone volume and tissue mineral density values for C57BL/6J laboratory mice. Dev Dyn. 2022 Jul;251(7):1196-1208. doi: 10.1002/dvdy.458. Epub 2022 Feb 7.
Pitirri MK, Durham EL, Romano NA, Santos JI, Coupe AP, Zheng H, Chen DZ, Kawasaki K, Jabs EW, Richtsmeier JT, Wu M, Motch Perrine SM. Meckel's Cartilage in Mandibular Development and Dysmorphogenesis. Front Genet. 2022 May 16;13:871927. doi: 10.3389/fgene.2022.871927. eCollection 2022.
Wu M, Kriti D, van Bakel H, Jabs EW, Holmes G. Laser Capture Microdissection of Mouse Embryonic Cartilage and Bone for Gene Expression Analysis. J Vis Exp. 2019 Dec 18;(154). doi: 10.3791/60503.
Kawasaki K, Mikami M, Goto M, Shindo J, Amano M, Ishiyama M. The Evolution of Unusually Small Amelogenin Genes in Cetaceans; Pseudogenization, X-Y Gene Conversion, and Feeding Strategy. J Mol Evol. 2020 Mar;88(2):122-135. doi: 10.1007/s00239-019-09917-0. Epub 2019 Nov 22.
Pitirri MK, Kawasaki K, Richtsmeier JT. It takes two: Building the vertebrate skull from chondrocranium and dermatocranium. Vertebr Zool. 2020 Apr;70(4):587-600. Epub 2020 Oct 28.
Holmes G, Gonzalez-Reiche AS, Lu N, Zhou X, Rivera J, Kriti D, Sebra R, Williams AA, Donovan MJ, Potter SS, Pinto D, Zhang B, van Bakel H, Jabs EW. Integrated Transcriptome and Network Analysis Reveals Spatiotemporal Dynamics of Calvarial Suturogenesis. Cell Rep. 2020 Jul 7;32(1):107871. doi: 10.1016/j.celrep.2020.107871.
Lam AS, Liu CC, Deutsch GH, Rivera J, Perkins JA, Holmes G, Jabs EW, Cunningham ML, Dahl JP. Genotype-Phenotype Correlation of Tracheal Cartilaginous Sleeves and Fgfr2 Mutations in Mice. Laryngoscope. 2021 Apr;131(4):E1349-E1356. doi: 10.1002/lary.29060. Epub 2020 Sep 4.
Singh R, Cohen ASA, Poulton C, Hjortshoj TD, Akahira-Azuma M, Mendiratta G, Khan WA, Azmanov DN, Woodward KJ, Kirchhoff M, Shi L, Edelmann L, Baynam G, Scott SA, Jabs EW. Deletion of ERF and CIC causes abnormal skull morphology and global developmental delay. Cold Spring Harb Mol Case Stud. 2021 Jun 11;7(3):a005991. doi: 10.1101/mcs.a005991. Print 2021 Jun.
Holmes G, Gonzalez-Reiche AS, Saturne M, Motch Perrine SM, Zhou X, Borges AC, Shewale B, Richtsmeier JT, Zhang B, van Bakel H, Jabs EW. Single-cell analysis identifies a key role for Hhip in murine coronal suture development. Nat Commun. 2021 Dec 8;12(1):7132. doi: 10.1038/s41467-021-27402-5.
Nicoletti P, Zafer S, Matok L, Irron I, Patrick M, Haklai R, Evangelista JE, Marino GB, Ma'ayan A, Sewda A, Holmes G, Britton SR, Lee WJ, Wu M, Ru Y, Arnaud E, Botto L, Brody LC, Byren JC, Caggana M, Carmichael SL, Cilliers D, Conway K, Crawford K, Cuellar A, Di Rocco F, Engel M, Fearon J, Feldkamp ML, Finnell R, Fisher S, Freudlsperger C, Garcia-Fructuoso G, Hagge R, Heuze Y, Harshbarger RJ, Hobbs C, Howley M, Jenkins MM, Johnson D, Justice CM, Kane A, Kay D, Gosain AK, Langlois P, Legal-Mallet L, Lin AE, Mills JL, Morton JEV, Noons P, Olshan A, Persing J, Phipps JM, Redett R, Reefhuis J, Rizk E, Samson TD, Shaw GM, Sicko R, Smith N, Staffenberg D, Stoler J, Sweeney E, Taub PJ, Timberlake AT, Topczewska J, Wall SA, Wilson AF, Wilson LC, Boyadjiev SA, Wilkie AOM, Richtsmeier JT, Jabs EW, Romitti PA, Karasik D, Birnbaum RY, Peter I. Regulatory elements in SEM1-DLX5-DLX6 (7q21.3) locus contribute to genetic control of coronal nonsyndromic craniosynostosis and bone density-related traits. Genet Med Open. 2024;2:101851. doi: 10.1016/j.gimo.2024.101851. Epub 2024 May 17.
Lesciotto KM, Motch Perrine SM, Kawasaki M, Stecko T, Ryan TM, Kawasaki K, Richtsmeier JT. Phosphotungstic acid-enhanced microCT: Optimized protocols for embryonic and early postnatal mice. Dev Dyn. 2020 Apr;249(4):573-585. doi: 10.1002/dvdy.136. Epub 2019 Nov 28.
Lee C, Richtsmeier JT, Kraft RH. A MULTISCALE COMPUTATIONAL MODEL FOR THE GROWTH OF THE CRANIAL VAULT IN CRANIOSYNOSTOSIS. Int Mech Eng Congress Expo. 2014 Nov;2014:V009T12A061. doi: 10.1115/IMECE2014-38728.
Related Links
Access external resources that provide additional context or updates about the study.
The eMOSS staging system-free, public webtool for any PI requiring increased temporal resolution for research using embryonic mice. Developed thru a collaboration-Dr. Joan Richtsmeier lab, Penn State Univ \& Dr. James Sharpe lab, Center for G
Other Identifiers
Review additional registry numbers or institutional identifiers associated with this trial.
GCO 13-0147
Identifier Type: -
Identifier Source: org_study_id
More Related Trials
Additional clinical trials that may be relevant based on similarity analysis.