Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms

Autor: Megan Yabumoto, Jessica Kianmahd, Meghna Singh, Maria F. Palafox, Angela Wei, Kathryn Elliott, Dana H. Goodloe, S. Joy Dean, Catherine Gooch, Brianna K. Murray, Erin Swartz, Samantha A. Schrier Vergano, Meghan C. Towne, Kimberly Nugent, Elizabeth R. Roeder, Christina Kresge, Beth A. Pletcher, Katheryn Grand, John M. Graham Jr., Ryan Gates, Natalia Gomez‐Ospina, Subhadra Ramanathan, Robin Dawn Clark, Kimberly Glaser, Paul J. Benke, Julie S. Cohen, Ali Fatemi, Weiyi Mu, Kristin W. Baranano, Jill A. Madden, Cynthia S. Gubbels, Timothy W. Yu, Pankaj B. Agrawal, Mary‐Kathryn Chambers, Chanika Phornphutkul, John A. Pugh, Kate A. Tauber, Svetlana Azova, Jessica R. Smith, Anne O’Donnell‐Luria, Hannah Medsker, Siddharth Srivastava, Deborah Krakow, Daniela N. Schweitzer, Valerie A. Arboleda

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 9, Iss 10, Pp n/a-n/a (2021)

Abstract The phenotypic variability associated with pathogenic variants in Lysine Acetyltransferase 6B (KAT6B, a.k.a. MORF, MYST4) results in several interrelated syndromes including Say‐Barber‐Biesecker‐Young‐Simpson Syndrome and Genitopatel

Externí odkaz: https://doaj.org/article/beed8cf5cfdc460cbcfd56990a49d6fd

Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms

Autor: Kathryn Elliott, Siddharth Srivastava, Meghan C. Towne, Hannah Medsker, Catherine Gooch, Robin D. Clark, John M. Graham, Chanika Phornphutkul, Jill A. Madden, Pankaj B. Agrawal, Maria F. Palafox, Deborah Krakow, Meghna Singh, Daniela N. Schweitzer, Ryan Gates, Ali Fatemi, Kimberly Nugent, Katheryn Grand, Samantha A. Schrier Vergano, Brianna K. Murray, Kate A. Tauber, Weiyi Mu, Erin Swartz, Timothy W. Yu, Julie S. Cohen, Kimberly Glaser, Svetlana Azova, Paul J. Benke, Mary Kathryn Chambers, Dana H. Goodloe, Christina Kresge, Valerie A. Arboleda, John A. Pugh, Kristin W. Barañano, Megan Yabumoto, S. Joy Dean, Beth A. Pletcher, Subhadra Ramanathan, Angela Wei, Jessica Kianmahd, Elizabeth Roeder, Natalia Gomez-Ospina, Jessica Smith, Cynthia S. Gubbels, Anne H. O’Donnell-Luria

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 9, Iss 10, Pp n/a-n/a (2021)
Molecular Genetics & Genomic Medicine
Molecular genetics & genomic medicine, vol 9, iss 10

The phenotypic variability associated with pathogenic variants in Lysine Acetyltransferase 6B (KAT6B, a.k.a. MORF, MYST4) results in several interrelated syndromes including Say‐Barber‐Biesecker‐Young‐Simpson Syndrome and Genitopatellar Syndr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3049de7f8ff607c1be67244b27b4cfb4
https://doaj.org/article/beed8cf5cfdc460cbcfd56990a49d6fd

A Retrospective Study of Bowel and Rectum Air Effect on Dose Coverage in Prostate, Colon, Gynecologic and Embryonal Rhabdomyosarcoma Tumors Treated With Robust Intensity-Modulated Proton Therapy

Autor: N. Schweitzer, Zeljko Vujaskovic, N.C. Biswal, Jerimy C. Polf, Jonathan B. Farr, W. Yao

Publikováno v: International Journal of Radiation Oncology*Biology*Physics. 108:e275

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::da958b9f45989c39a13ed456c2d6d4c7
https://doi.org/10.1016/j.ijrobp.2020.07.660

Systemic therapy of cholangiocarcinoma: From chemotherapy to targeted therapies

Autor: N. Schweitzer, A. Vogel

Publikováno v: Best Practice & Research Clinical Gastroenterology. 29:345-353

Cholangiocarcinomas (CCA) are rare tumors of the liver with poor prognosis. The standard of care in patients with unresectable tumors or metastatic disease is combination chemotherapy (CT) with gemcitabine and cisplatin. Targeted therapies inhibiting

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::830fb7781b8ccf3fc607fcb4d79e4266
https://doi.org/10.1016/j.bpg.2015.01.002

Familial Recurrence of 3MC Syndrome in Consanguineous Families: A Clinical and Molecular Diagnostic Approach With Review of the Literature

Autor: Daniela N. Schweitzer, Pedro A. Sanchez-Lara, Alexis L. Johns, Karla Haynes, Mark M. Urata, William P. Magee, Olivia K. Gardner

Publikováno v: The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association. 54(6)

We report four individuals from two unrelated consanguineous families with 3MC syndrome. In the first family, chromosome microarray data revealed that the two affected sisters, born to first-cousin parents, shared a unique homozygous C-terminal delet

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4aa688b61b8e0f0efd57c9a0baca105d
https://pubmed.ncbi.nlm.nih.gov/27356087