Long-read genome sequencing resolves complex genomic rearrangements in rare genetic syndromes

Authors: Iftekhar A. Showpnil, Maria E. Hernandez Gonzalez, Swetha Ramadesikan, Mohammad Marhabaie, Allison Daley, Leeran Dublin-Ryan, Matthew T. Pastore, Umamaheswaran Gurusamy, Jesse M. Hunter, Brandon S. Stone, Dennis W. Bartholomew, Kandamurugu Manickam, Anthony R. Miller, Richard K. Wilson, Rolf W. Stottmann, Daniel C. Koboldt

Source: npj Genomic Medicine, Vol 9, Iss 1, Pp 1-12 (2024)

Subject Terms: Medicine, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2056-7944

Access URL: https://doaj.org/article/a4f7cdcd1f8b40b4abac22ac18b0dace

A distant global control region is essential for normal expression of anterior HOXA genes during mouse and human craniofacial development

Authors: Andrea Wilderman, Eva D’haene, Machteld Baetens, Tara N. Yankee, Emma Wentworth Winchester, Nicole Glidden, Ellen Roets, Jo Van Dorpe, Sandra Janssens, Danny E. Miller, Miranda Galey, Kari M. Brown, Rolf W. Stottmann, Sarah Vergult, K. Nicole Weaver, Samantha A. Brugmann, Timothy C. Cox, Justin Cotney

Source: Nature Communications, Vol 15, Iss 1, Pp 1-23 (2024)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/d8bfbb8f7d514cd7a8d154657d67b4ca

Correction: A novel hypomorphic allele of Spag17 causes primary ciliary dyskinesia phenotypes in mice

Authors: Zakia Abdelhamed, Marshall Lukacs, Sandra Cindric, Saima Ali, Heymut Omran, Rolf W. Stottmann

Source: Disease Models & Mechanisms, Vol 14, Iss 1 (2021)

Subject Terms: Medicine, Pathology, RB1-214

File Description: electronic resource

Relation: http://dmm.biologists.org/content/14/1/dmm048645; https://doaj.org/toc/1754-8403; https://doaj.org/toc/1754-8411

Access URL: https://doaj.org/article/6f76622049bd4fba8a0dae873da5decf

A novel hypomorphic allele of Spag17 causes primary ciliary dyskinesia phenotypes in mice

Authors: Zakia Abdelhamed, Marshall Lukacs, Sandra Cindric, Heymut Omran, Rolf W. Stottmann

Source: Disease Models & Mechanisms, Vol 13, Iss 10 (2020)

Subject Terms: cilia, hydrocephalus, infertility, lung, primary ciliary dyskinesia, spag17, Medicine, Pathology, RB1-214

File Description: electronic resource

Relation: http://dmm.biologists.org/content/13/10/dmm045344; https://doaj.org/toc/1754-8403; https://doaj.org/toc/1754-8411

Access URL: https://doaj.org/article/b1b8d0df823244dda23fd4a165c2c12e

A Novel Mutation in Cse1l Disrupts Brain and Eye Development with Specific Effects on Pax6 Expression

Authors: Lauren E. Blizzard, Chelsea Menke, Shaili D. Patel, Ronald R. Waclaw, Salil A. Lachke, Rolf W. Stottmann

Source: Journal of Developmental Biology, Vol 9, Iss 3, p 27 (2021)

Subject Terms: Cse1l, ENU, Pax6, microphthalmia, mutagenesis, anophthalmia, Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://www.mdpi.com/2221-3759/9/3/27; https://doaj.org/toc/2221-3759

Access URL: https://doaj.org/article/bd079224bc8a4199b967c89df9a42768

Altered cholesterol biosynthesis causes precocious neurogenesis in the developing mouse forebrain

Authors: Ashley M. Driver, Lisa E. Kratz, Richard I. Kelley, Rolf W. Stottmann

Source: Neurobiology of Disease, Vol 91, Iss , Pp 69-82 (2016)

Subject Terms: Cortical neurogenesis, Cholesterol biosynthesis, Cell fate, Neural progenitors, Forebrain, Neurogenesis, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0969996116300390; https://doaj.org/toc/1095-953X

Access URL: https://doaj.org/article/3cdd66b5cf694b7f8efcda1af2acfc53

Ttc21b Is Required in Bergmann Glia for Proper Granule Cell Radial Migration

Authors: Ashley M. Driver, Christopher Shumrick, Rolf W. Stottmann

Source: Journal of Developmental Biology, Vol 5, Iss 4, p 18 (2017)

Subject Terms: Ttc21b, cilia, Shh, cerebellum, postnatal, migration, Purkinje cell, Bergmann glia, Cre, LoxP, Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://www.mdpi.com/2221-3759/5/4/18; https://doaj.org/toc/2221-3759

Access URL: https://doaj.org/article/795b74aae9974d0e98fcf65d560c3a81

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Endogenous bone morphogenetic protein antagonists regulate mammalian neural crest generation and survival.

Authors: Ryan M. Anderson, Rolf W. Stottmann, Murim Choi, John Klingensmith

Source: Developmental Dynamics; Sep2006, Vol. 235 Issue 9, p2507-2520, 14p

Gpr63 is a modifier of microcephaly in Ttc21b mouse mutants.

Authors: John Snedeker, William J Gibbons, David F Paulding, Zakia Abdelhamed, Daniel R Prows, Rolf W Stottmann

Source: PLoS Genetics, Vol 15, Iss 11, p e1008467 (2019)

Subject Terms: Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

Access URL: https://doaj.org/article/516befcb73b34af68e91e757e6b55bdb

Differential requirements of tubulin genes in mammalian forebrain development.

Authors: Elizabeth Bittermann, Zakia Abdelhamed, Ryan P Liegel, Chelsea Menke, Andrew Timms, David R Beier, Rolf W Stottmann

Source: PLoS Genetics, Vol 15, Iss 8, p e1008243 (2019)

Subject Terms: Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

Access URL: https://doaj.org/article/9d52733258a44ba8acb68446ac9f11f2

Glycosylphosphatidylinositol biosynthesis and remodeling are required for neural tube closure, heart development, and cranial neural crest cell survival

Authors: Marshall Lukacs, Tia Roberts, Praneet Chatuverdi, Rolf W Stottmann

Source: eLife, Vol 8 (2019)

Subject Terms: glycosylphosphatidylinositol, craniofacial, neural crest, congenital disorders of glycosylation, Folic/folinic acid, development, Medicine, Science, Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://elifesciences.org/articles/45248; https://doaj.org/toc/2050-084X

Access URL: https://doaj.org/article/04377fca5c7d48e9a9dce78c64114798

A tissue-specific role for intraflagellar transport genes during craniofacial development.

Authors: Elizabeth N Schock, Jaime N Struve, Ching-Fang Chang, Trevor J Williams, John Snedeker, Aria C Attia, Rolf W Stottmann, Samantha A Brugmann

Source: PLoS ONE, Vol 12, Iss 3, p e0174206 (2017)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC5367710?pdf=render; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/812c24cf00e7403e972be604bc294203

Unique spatiotemporal requirements for intraflagellar transport genes during forebrain development.

Authors: John Snedeker, Elizabeth N Schock, Jamie N Struve, Ching-Fang Chang, Megan Cionni, Pamela V Tran, Samantha A Brugmann, Rolf W Stottmann

Source: PLoS ONE, Vol 12, Iss 3, p e0173258 (2017)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC5349613?pdf=render; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/2df64b1f400d41e59e1bebc42567e1fd

Everolimus Stabilizes Podocyte Microtubules via Enhancing TUBB2B and DCDC2 Expression.

Authors: Stefanie Jeruschke, Kay Jeruschke, Andrew DiStasio, Sinem Karaterzi, Anja K Büscher, Perihan Nalbant, Ludger Klein-Hitpass, Peter F Hoyer, Jürgen Weiss, Rolf W Stottmann, Stefanie Weber

Source: PLoS ONE, Vol 10, Iss 9, p e0137043 (2015)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC4557973?pdf=render; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/a717350a9c5046bfa105ee797e497590

The mouse MC13 mutant is a novel ENU mutation in collagen type II, alpha 1.

Authors: Megan Cionni, Chelsea Menke, Rolf W Stottmann

Source: PLoS ONE, Vol 9, Iss 12, p e116104 (2014)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC4277458?pdf=render; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/307899e9ae024de0a3e5cc32295a97af

Cholesterol metabolism is required for intracellular hedgehog signal transduction in vivo.

Authors: Rolf W Stottmann, Annick Turbe-Doan, Pamela Tran, Lisa E Kratz, Jennifer L Moran, Richard I Kelley, David R Beier

Source: PLoS Genetics, Vol 7, Iss 9, p e1002224 (2011)

Subject Terms: Genetics, QH426-470

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC3164675?pdf=render; https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

Access URL: https://doaj.org/article/ced524323ea84dde9243e3980dbe8c83