A Chinese patient with Rothmund-Thomson syndrome.

Autor: Zeng J; Obstetrics Department, Shenzhen Maternity and Child Healthcare Hospital, Shenzhen, Guangdong Province, China., Li J; BGI-Shenzhen, Shenzhen, China.; College of Life Sciences, University of Chinese Academy of Sciences, Beijing, China., Liu Y; BGI-Shenzhen, Shenzhen, China.; College of Life Sciences, University of Chinese Academy of Sciences, Beijing, China., Liang R; BGI-Shenzhen, Shenzhen, China., Wang L; BGI-Shenzhen, Shenzhen, China., Zhou Q; BGI-Shenzhen, Shenzhen, China., Sun J; BGI-Shenzhen, Shenzhen, China., Liu Z; BGI-Shenzhen, Shenzhen, China., Wang WJ; BGI-Shenzhen, Shenzhen, China., Zhu S; Obstetrics Department, Shenzhen Maternity and Child Healthcare Hospital, Shenzhen, Guangdong Province, China.

Publikováno v: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Jan; Vol. 12 (1), pp. e2347. Date of Electronic Publication: 2023 Dec 22.

A family with nine siblings showing signs of Rothmund–Thomson syndrome with two being definitely diagnosed with the syndrome due to homozygous N‐terminal mutation of RECQL4.

Autor: Yadegari, Fatemeh¹ (AUTHOR), Abed, Aseel Rashid² (AUTHOR), Abd Ali, Widad Yadallah² (AUTHOR), Al‐Abedi, Haider Hamza² (AUTHOR), Zarinfam, Shiva¹ (AUTHOR), Aminian, Solaleh¹ (AUTHOR), Majidzadeh‐A, Keivan¹ (AUTHOR) kmajidzadeh@acecr.ac.ir

Publikováno v: Clinical Case Reports. Aug2024, Vol. 12 Issue 8, p1-6. 6p.

A case of Rothmund-Thomson syndrome originally thought to be a case of Bloom syndrome.

Autor: Marmolejo Castañeda DH; Medical Oncology Department, Vall d'Hebron Barcelona Hospital Campus, Passeig Vall dHebron 119-129, 08035, Barcelona, Spain., Cruellas Lapeña M; Medical Oncology Department, Vall d'Hebron Barcelona Hospital Campus, Passeig Vall dHebron 119-129, 08035, Barcelona, Spain.; Hereditary Cancer Genetics Program, Vall d'Hebron Institute of Oncology, Barcelona, Spain., Carrasco López E; Hereditary Cancer Genetics Program, Vall d'Hebron Institute of Oncology, Barcelona, Spain., Aparicio Español G; Dermatology Department, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain., Valverde Morales C; Medical Oncology Department, Vall d'Hebron Barcelona Hospital Campus, Passeig Vall dHebron 119-129, 08035, Barcelona, Spain., López-Fernández A; Hereditary Cancer Genetics Program, Vall d'Hebron Institute of Oncology, Barcelona, Spain., Pérez Ballesteros E; Hereditary Cancer Genetics Program, Vall d'Hebron Institute of Oncology, Barcelona, Spain., Torres-Esquius S; Hereditary Cancer Genetics Program, Vall d'Hebron Institute of Oncology, Barcelona, Spain., Pardo Muñoz M; Hereditary Cancer Genetics Program, Vall d'Hebron Institute of Oncology, Barcelona, Spain., Balmaña Gelpi J; Medical Oncology Department, Vall d'Hebron Barcelona Hospital Campus, Passeig Vall dHebron 119-129, 08035, Barcelona, Spain. jbalmana@vhio.net.; Hereditary Cancer Genetics Program, Vall d'Hebron Institute of Oncology, Barcelona, Spain. jbalmana@vhio.net.

Publikováno v: Familial cancer [Fam Cancer] 2023 Jan; Vol. 22 (1), pp. 99-102. Date of Electronic Publication: 2022 Jul 04.

Atypical presentations of RECQL4-related syndromes.

Autor: Grossman LD; Division of Hematology-Oncology, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel.; Division of Oncology and Center for Childhood Cancer Research, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Baldino S; Division of Oncology and Center for Childhood Cancer Research, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Zelley K; Division of Oncology and Center for Childhood Cancer Research, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Balis F; Division of Oncology and Center for Childhood Cancer Research, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Division of Oncology, Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Bagatell R; Division of Oncology and Center for Childhood Cancer Research, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Division of Oncology, Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Kalish JM; Division of Oncology and Center for Childhood Cancer Research, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Human Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., MacFarland SP; Division of Oncology and Center for Childhood Cancer Research, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Division of Oncology, Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.

Publikováno v: Pediatric blood & cancer [Pediatr Blood Cancer] 2024 Dec; Vol. 71 (12), pp. e31315. Date of Electronic Publication: 2024 Sep 24.

Molecular and Cellular Responses to Ionization Radiation in Untransformed Fibroblasts from the Rothmund–Thomson Syndrome: Influence of the Nucleo-Shuttling of the ATM Protein Kinase

Autor: Joëlle Al-Choboq, Myriam Nehal, Laurène Sonzogni, Adeline Granzotto, Laura El Nachef, Juliette Restier-Verlet, Mira Maalouf, Elise Berthel, Bernard Aral, Nadège Corradini, Michel Bourguignon, Nicolas Foray

Publikováno v: Radiation, Vol 3, Iss 1, Pp 21-38 (2023)

The Rothmund–Thomson syndrome (RTS) is a rare autosomal recessive disease associated with poikiloderma, telangiectasias, sun-sensitive rash, hair growth problems, juvenile cataracts and, for a subset of some RTS patients, a high risk of cancer, esp

Externí odkaz: https://doaj.org/article/96d82157c20449a08115a11e96534e13