Zobrazeno 1 - 10
of 42
pro vyhledávání: '"Lois J Starr"'
Autor:
Lois J Starr, Mark E Lindsay, Deborah Perry, Gregory Gheewalla, Paul A VanderLaan, Adnan Majid, Charlie Strange, George-Claudiu Costea, Adrian Lungu, Angela E Lin
Publikováno v:
Pediatric and Developmental Pathology. 25:611-623
Background: Myhre syndrome, caused by pathogenic variants in SMAD4, is characterized by compact body habitus with short stature, distinctive craniofacial appearance, stiff skin, cardiovascular abnormalities (valve stenosis, coarctation, hypoplasia, o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fe94a20679ac573b265fb7bc68b1cea3
https://doi.org/10.1177/10935266221079569
https://doi.org/10.1177/10935266221079569
Autor:
Gholson J. Lyon, Marall Vedaie, Travis Beisheim, Agnes Park, Elaine Marchi, Leah Gottlieb, Tzung-Chien Hsieh, Hannah Klinkhammer, Katherine Sandomirsky, Hanyin Cheng, Lois J. Starr, Isabelle Preddy, Marcellus Tseng, Quan Li, Yu Hu, Kai Wang, Ana Carvalho, Francisco Martinez, Alfonso Caro-Llopis, Maureen Gavin, Karen Amble, Peter Krawitz, Ronen Marmorstein, Ellen Herr-Israel
Publikováno v:
European Journal of Human Genetics.
Amino-terminal (Nt-) acetylation (NTA) is a common protein modification, affecting 80% of cytosolic proteins in humans. The human essential gene, NAA10, encodes for the enzyme NAA10, which is the catalytic subunit in the N-terminal acetyltransferase
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::72b1f354bfc0cb528fcbb062397e3556
https://doi.org/10.1038/s41431-023-01368-y
https://doi.org/10.1038/s41431-023-01368-y
Autor:
Lois J, Starr, Mark E, Lindsay, Deborah, Perry, Gregory, Gheewalla, Paul A, VanderLaan, Adnan, Majid, Charlie, Strange, George-Claudiu, Costea, Adrian, Lungu, Angela E, Lin
Publikováno v:
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society. 25(6)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::288be07800da3bc193853cd253b522e9
https://pubmed.ncbi.nlm.nih.gov/36120950
https://pubmed.ncbi.nlm.nih.gov/36120950
Autor:
Gholson J. Lyon, Marall Vedaie, Travis Besheim, Agnes Park, Elaine Marchi, Leah Gottlieb, Tzung-Chien Hsieh, Hannah Klinkhammer, Katherine Sandomirsky, Hanyin Cheng, Lois J. Starr, Isabelle Preddy, Marcellus Tseng, Quan Li, Yu Hu, Kai Wang, Ana Carvalho, Francisco Martinez, Alfonso Caro-Llopis, Maureen Gavin, Karen Amble, Peter Krawitz, Ronen Marmorstein, Ellen Herr-Israel
Amino-terminal (Nt-) acetylation (NTA) is a common protein modification, affecting 80% of cytosolic proteins in humans. The human essential gene,NAA10,encodes for the enzyme NAA10, which is the catalytic subunit in the N-terminal acetyltransferase A
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a190b514c83de19dc61421f61a1dfbaa
https://doi.org/10.1101/2022.08.22.22279061
https://doi.org/10.1101/2022.08.22.22279061
Publikováno v:
Clinical Dysmorphology. 30:159-163
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cae2b31b4842e194302acdbe04d1bc36
https://doi.org/10.1097/mcd.0000000000000367
https://doi.org/10.1097/mcd.0000000000000367
Publikováno v:
The Encyclopedia of Child and Adolescent Development. :1-8
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::58ef781a53630f85921f1f6de0ada0ac
https://doi.org/10.1002/9781119171492.wecad041
https://doi.org/10.1002/9781119171492.wecad041
Autor:
Abdulrazak Alali, Susan Klugman, Anna Beavis, Nidhi Shah, Elaine M. Pereira, Mark E. Lindsay, Angela E. Lin, Lois J. Starr
Publikováno v:
American Journal of Medical Genetics Part A. 182:328-337
Myhre syndrome is an increasingly diagnosed rare syndrome that is caused by one of two specific heterozygous gain-of-function pathogenic variants in SMAD4. The phenotype includes short stature, characteristic facial appearance, hearing loss, laryngot
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ded0e7c4d778349598b7d3f1e7ece81a
https://doi.org/10.1002/ajmg.a.61430
https://doi.org/10.1002/ajmg.a.61430
Autor:
Fowzan S. Alkuraya, Eric J. Mallack, Ingrid M. Wentzensen, John Karl de Dios, Subhadra Ramanathan, Robin D. Clark, Alpa Sidhu, Mais Hashem, Valérie Cormier-Daire, Maya Chopra, Danita Velasco, Shenela Lakhani, Lois J. Starr, Emily Singh, Didier Lacombe, Karin Panzer, Chloe Whitton, Elizabeth E. Palmer, Vincent Michaud, Lance H. Rodan, Christoffer Nellåker
Publikováno v:
Clinical Genetics
Clinical Genetics, Wiley, 2021, 100 (4), pp.468-477. ⟨10.1111/cge.14022⟩
Clinical Genetics, Wiley, 2021, 100 (4), pp.468-477. ⟨10.1111/cge.14022⟩
We describe the clinical features of nine unrelated individuals with rare de novo missense or in-frame deletions/duplications within the « HX motif » of exon 7 of ATN1. We previously proposed that individuals with such variants should be considered
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10e85ad720e7cca36100e187737e9b77
https://pubmed.ncbi.nlm.nih.gov/34212383
https://pubmed.ncbi.nlm.nih.gov/34212383
Autor:
null Elizabeth E. Palmer, null Chloe Whitton, null Mais O. Hashem, null Robin D. Clark, null Subhadra Ramanathan, null Lois J. Starr, null Danita Velasco, null John Karl De Dios, null Emily Singh, null Valerie Cormier‐Daire, null Maya Chopra, null Lance H. Rodan, null Christoffer Nellaker, null Shenela Lakhani, null Eric J. Mallack, null Karin Panzer, null Alpa Sidhu, null Ingrid M. Wentzensen, null Didier Lacombe, null Vincent Michaud, null Fowzan S. Alkuraya
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::af27e6355f3ad15f2dffd84397e8133c
https://doi.org/10.1111/cge.14022/v2/response1
https://doi.org/10.1111/cge.14022/v2/response1
Autor:
T. Bernard Kinane, Mark E. Lindsay, Angela E. Lin, Sofia Douzgou, Lois J. Starr, Valérie Cormier-Daire, Bert Callewaert, Nicola Brunetti-Pierri
Publikováno v:
GeroScience
SMAD4 encodes a member of the SMAD family of proteins involved in the TGF-β signaling pathway. Potentially heritable, autosomal dominant, gain-of-function heterozygous variants of SMAD4 cause a rare developmental disorder, the Myhre syndrome, which
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0382a3d929c35b666ba9035804e116c4
https://europepmc.org/articles/PMC8110621/
https://europepmc.org/articles/PMC8110621/