Review
Genetics & Heredity
Raffaella Maria Sguinzi, Souria Aissaoui, Muriel Genevay-Infante, Romain Breguet, Pierre Charbonnet, Karim Francis, Riad Kini, Leo Buehler
Summary: Based on a case report, this review explores the genomic landscape of liposarcoma patients and the potential relationship with gene mutations associated with craniosynostosis. The case of a 40-year-old man with a history of craniosynostosis who underwent surgery for a retroperitoneal liposarcoma is described. Genetic analysis did not detect any specific mutation, but a literature review revealed the presence of FGFR3 mutation in dedifferentiated liposarcomas. No genetic relationship between craniosynostosis and low-grade differentiated retroperitoneal liposarcoma has been reported. Further studies are needed to investigate the possible genetic connection between retroperitoneal liposarcoma and craniosynostosis.
FUNCTIONAL & INTEGRATIVE GENOMICS
(2023)
Article
Biology
Pei-Hang Xu, Siyuan Chen, Yanhao Wang, Shengming Jin, Jun Wang, Dingwei Ye, Xiaodong Zhu, Yijun Shen
Summary: This study investigates the impact of mFGFR3 on the immune status in bladder cancer and the regulation of immune response by FGFR3. The results reveal differential immunity caused by mFGFR3 and the FIPS model effectively predicts prognosis in bladder cancer by identifying patients with diverse immune infiltration and mFGFR3 status in different risk groups.
COMPUTERS IN BIOLOGY AND MEDICINE
(2023)
Article
Genetics & Heredity
Umi Tahara, Masahito Yasuda, Yozo Yamada, Satomi Aoki, Showbu Sato, Masayuki Amagai, Akiharu Kubo
Summary: Mutations in FGFR3 can cause familial acanthosis nigricans, with the c.2302G>T (p.E768*) mutation being a unique autosomal dominant nonsense mutation.
JOURNAL OF HUMAN GENETICS
(2021)
Article
Cell Biology
Yidi Wang, Yue Liu, Haotian Chen, Xiaojing Liu, Yi Zhang, Yixiang Wang, Yan Gu
Summary: In this study, FGFR2 mutation p.Cys342Arg was found to promote osteogenesis by enhancing mitochondrial metabolism-mediated FGF/FGFR-AMPK-Erk1/2 signaling pathway. This finding suggests the potential of targeting AMPK or Erk1/2 for the treatment of syndromic craniosynostosis.
Article
Biotechnology & Applied Microbiology
Ruiqiong Liu, Wei Wei, Huaying Hou, Ping Cong, Yong Zhou, Xiaoming Yu
Summary: This report describes a case of PSC GBM treated with anlotinib, highlighting the potential of anlotinib in the treatment of PSC GBM and providing support for molecular diagnosis and precision medicine.
ONCOTARGETS AND THERAPY
(2022)
Article
Biochemistry & Molecular Biology
Kazumasa Komura, Kensuke Hirosuna, Satoshi Tokushige, Takuya Tsujino, Kazuki Nishimura, Mitsuaki Ishida, Takuo Hayashi, Ayako Ura, Takaya Ohno, Shogo Yamazaki, Keita Nakamori, Shoko Kinoshita, Ryoichi Maenosono, Masahiko Ajiro, Yuki Yoshikawa, Tomoaki Takai, Takeshi Tsutsumi, Kohei Taniguchi, Tomohito Tanaka, Kiyoshi Takahara, Tsuyoshi Konuma, Teruo Inamoto, Yoshinobu Hirose, Fumihito Ono, Yuichi Shiraishi, Akihide Yoshimi, Haruhito Azuma
Summary: This study reveals the association between fibroblast growth factor receptor 3 (FGFR3) alterations and the tumor microenvironment (TME) in bladder cancer. The basal markers were significantly increased in MIBC/aFGFR3 compared to MIBC/iFGFR3. Heterogeneous TME was identified within MIBC/aFGFR3, leading to differential outcomes for checkpoint inhibitors (CPIs). LumP/aFGFR3 showed a higher objective response rate (ORR) to CPIs, while LumP/iFGFR3 had a poor ORR. Several immune-related genes were upregulated in LumP/iFGFR3 cases.
Article
Urology & Nephrology
Jun Long, Yafei Yang, Jin Yang, Lin Chen, Song Wang, Xin Zhou, Yao Su, Chenhuan Liu
Summary: This study investigates the effects of Thbs1 on bladder remodeling caused by pBOO. Results show that Thbs1 plays a crucial role in bladder remodeling caused by pBOO. Targeting Thbs1 may alleviate ECM damage. Mechanistically, Thbs1 may function via the FGFR signaling pathway by regulating the FGFR3 receptor, identified as the most relevant disease target of pBOO, and FGF2 may be a mediator.
NEUROUROLOGY AND URODYNAMICS
(2023)
Article
Oncology
Geoffrey A. Pettitt, Carolyn D. Hurst, Zubeda Khan, Helen R. McPherson, Matthew C. Dunning, Olivia Alder, Fiona M. Platt, Emma V. Black, Julie E. Burns, Margaret A. Knowles
Summary: Resistance to FGFR inhibitors is common in bladder cancer, and various molecular profiles and mechanisms contribute to this resistance. Personalized therapy for FGFR-driven cancers is challenging due to the heterogeneity in resistance mechanisms and the persistence of resistant cell populations.
JOURNAL OF PATHOLOGY
(2023)
Article
Andrology
Lanxiang Hao, Jiang Fang, Ran Xu, Shuo Liu, Guangcheng Luo, Xinjun Wang
Summary: This study analyzed the gene mutations in Chinese patients with bladder cancer and explored the relationship between fibroblast growth factor receptor 3 (FGFR3) and the prognosis and recurrence of bladder cancer.
TRANSLATIONAL ANDROLOGY AND UROLOGY
(2023)
Article
Andrology
Lanxiang Hao, Jiang Fang, Ran Xu, Shuo Liu, Guangcheng Luo, Xinjun Wang
Summary: This study analyzed the detection results of gene mutations in Chinese bladder cancer patients and explored the relationship between FGFR3 and prognosis and recurrence of bladder cancer. FGFR3 mutations were found to be more frequent in non-muscle-invasive bladder cancer patients, and the most common mutation types were p.Ser249Cys, p.Tyr375Cys, and p.Arg248Cys. These findings may optimize clinical individualization strategies for bladder cancer patients.
TRANSLATIONAL ANDROLOGY AND UROLOGY
(2023)
Article
Cell Biology
Takeshi Kimura, Michaela Bosakova, Yosuke Nonaka, Eva Hruba, Kie Yasuda, Satoshi Futakawa, Takuo Kubota, Bohumil Fafilek, Tomas Gregor, Sara P. Abraham, Regina Gomolkova, Silvie Belaskova, Martin Pesl, Fabiana Csukasi, Ivan Duran, Masatoshi Fujiwara, Michaela Kavkova, Tomas Zikmund, Josef Kaiser, Marcela Buchtova, Deborah Krakow, Yoshikazu Nakamura, Keiichi Ozono, Pavel Krejci
Summary: The study demonstrates that RBM-007 can effectively inhibit FGFR3 signaling, repair detrimental effects on cartilage and skeletal development, providing a potential therapeutic approach for achondroplasia and other FGFR3-related skeletal dysplasias.
SCIENCE TRANSLATIONAL MEDICINE
(2021)
Article
Surgery
Thais Miguel Monte, Edmar Maciel Lima Junior, Manoel Odorico de Moraes Filho, Carlos Roberto Koscky Paier, Felipe Augusto Rocha Rodrigues, Ana Paula Negreiros Nunes Alves, Monica Beatriz Mathor, Cassio Eduardo Raposo-Amaral
Summary: This study aims to investigate whether the use of tilapia skin during graft bed preparation for children with Apert syndrome can shorten wound reepithelialization intervals, reduce the number of dressing changes, and decrease patient discomfort.
JOURNAL OF CRANIOFACIAL SURGERY
(2023)
Article
Oncology
Andrew J. Weickhardt, David K. Lau, Margeaux Hodgson-Garms, Austen Lavis, Laura J. Jenkins, Natalia Vukelic, Paul Ioannidis, Ian Y. Luk, John M. Mariadason
Summary: This study identified that FGFR3 fusion genes in bladder cancer cells confer sensitivity to FGFR inhibitors, but resistance is mainly mediated by alternate activation of MAPK signaling. Combination treatment with FGFR and pan-ERBB inhibitors can overcome this resistance.
Article
Multidisciplinary Sciences
Seyed Amir Hossein Tabatabaei, Patrick Fischer, Sonja Wattendorf, Fatemeh Sabouripour, Hans-Peter Howaldt, Martina Wilbrand, Jan-Falco Wilbrand, Keywan Sohrabi
Summary: Deformational plagiocephaly is a serious health issue in newborns, and timely diagnosis and treatment are crucial. A deep learning network architecture-based classification model is proposed in this paper, achieving high accuracy in detecting and monitoring through images captured by smartphones.
SCIENTIFIC REPORTS
(2021)
Article
Endocrinology & Metabolism
Ting Xu, Liang Shi, Weiqian Dai, Xuefan Gu, Yongguo Yu, Yanjie Fan
Summary: Two patients with features of hypochondroplasia-like were identified with a novel cryptic splicing variant of the FGFR3 gene, resulting in abnormal protein structure, which is the first likely pathogenic splicing variant identified. This variant was also detected in one additional patient among genetically unresolved cases.
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
(2021)
Article
Genetics & Heredity
Eduardo Calpena, Maud Wurmser, Simon J. McGowan, Rodrigo Atique, Debora R. Bertola, Michael L. Cunningham, Jonas A. Gustafson, David Johnson, Jenny E. Morton, Maria Rita Passos-Bueno, Andrew T. Timberlake, Richard P. Lifton, Steven A. Wall, Stephen R. F. Twigg, Pascal Maire, Andrew O. M. Wilkie
Summary: This study identified an association between craniosynostosis and heterozygous SIX1 gene variants, particularly loss-of-function variants. Screening for SIX1 is recommended in craniosynostosis, especially when specific symptoms are present.
JOURNAL OF MEDICAL GENETICS
(2022)
Article
Surgery
Sarah Kilcoyne, Carrie Luscombe, Paula Scully, Sarah Overton, Sally Brockbank, Marc C. Swan, David Johnson, Steven Wall, Andrew O. M. Wilkie
Summary: The study investigated children with Apert syndrome and found that those with the S252W mutation had more severe difficulties with communicative participation compared to those with the P253R mutation.
JOURNAL OF CRANIOFACIAL SURGERY
(2022)
Article
Genetics & Heredity
Cristina Lorenzo, Andre M. Travessa, Ana Cristovao Ferreira, Silvia Modamio-Hoybjor, Karen E. Heath, Carla Pereira
Summary: Rothmund-Thomson syndrome (RTS) is a rare genetic disorder characterized by rash progressing to poikiloderma, along with various other symptoms. This study presents a case of a African girl with RTS caused by variants in the RECQL4 gene, exhibiting some uncommon symptoms and expanding the phenotypic spectrum of the disorder.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2023)
Article
Genetics & Heredity
Rebecca S. Tooze, Eduardo Calpena, Stephen R. F. Twigg, Felice D'Arco, Emma L. Wakeling, Andrew O. M. Wilkie
Summary: This article reports the first case of complete loss of SPRY1 function in humans, which is associated with abnormalities of cranial sutures, inner ear, and kidneys.
JOURNAL OF MEDICAL GENETICS
(2023)
Review
Genetics & Heredity
Johannes Zschocke, Peter H. Byers, Andrew O. M. Wilkie
Summary: Understanding the consequences of genotype for phenotype is crucial in genetic diagnostics, but current measures of deleteriousness have limitations for predicting clinical outcomes. Knowing the reasons why some alleles are harmful in heterozygous state while others require biallelic pathogenic presence is important in dealing with rare genetic alterations identified by high throughput DNA sequencing. Knowledge of specific variant effects and allelic interactions is necessary for accurate diagnosis, treatment, and counseling of individuals with genetic disorders.
NATURE REVIEWS GENETICS
(2023)
Article
Genetics & Heredity
Mohamad Maghnie, Oliver Semler, Encarna Guillen-Navarro, Angelo Selicorni, Karen E. Heath, Gabriele Haeusler, Lars Hagenaes, Andrea Merker, Antonio Leiva-Gea, Vanesa Lopez Gonzalez, Adalbert Raimann, Mirko Rehberg, Fernando Santos-Simarro, Diana-Alexandra Ertl, Pernille Axel Gregersen, Roberta Onesimo, Erik Landfeldt, James Jarrett, Jennifer Quinn, Richard Rowell, Jeanne Pimenta, Shelda Cohen, Thomas Butt, Renee Shediac, Swati Mukherjee, Klaus Mohnike
Summary: This study investigated the burden of achondroplasia among individuals across a broad range of ages in Europe and found that achondroplasia is associated with multisystem complications, reduced quality of life and functionality, and increased pain. These findings highlight the significant amount of healthcare resources individuals with achondroplasia require throughout their lifespans and provide novel insights into current achondroplasia management practices in Europe.
ORPHANET JOURNAL OF RARE DISEASES
(2023)
Article
Multidisciplinary Sciences
Marie Bernkopf, Ummi B. Abdullah, Stephen J. Bush, Katherine A. Wood, Sahar Ghaffari, Eleni Giannoulatou, Nils Koelling, Geoffrey J. Maher, Loic M. Thibaut, Jonathan Williams, Edward M. Blair, Fiona Blanco Kelly, Angela Bloss, Emma Burkitt-Wright, Natalie Canham, Alexander T. Deng, Abhijit Dixit, Jacqueline Eason, Frances Elmslie, Alice Gardham, Eleanor Hay, Muriel Holder, Tessa Homfray, Jane A. Hurst, Diana Johnson, Wendy D. Jones, Usha Kini, Emma Kivuva, Ajith Kumar, Melissa M. Lees, Harry G. Leitch, Jenny E. V. Morton, Andrea H. Nemeth, Shwetha Ramachandrappa, Katherine Saunders, Deborah J. Shears, Lucy Side, Miranda Splitt, Alison Stewart, Helen Stewart, Mohnish Suri, Penny Clouston, Robert W. Davies, Andrew O. M. Wilkie, Anne Goriely
Summary: This study presents a systematic approach to providing individualized recurrence risk, which can stratify most couples into seven discrete categories associated with substantially different risks to future offspring. It offers the prospect of driving a major transformation in the practice of genetic counselling.
NATURE COMMUNICATIONS
(2023)
Review
Genetics & Heredity
Rebecca S. Tooze, Eduardo Calpena, Astrid Weber, Louise C. Wilson, Stephen R. F. Twigg, Andrew O. M. Wilkie
Summary: Craniosynostosis, a condition where the cranial sutures fuse prematurely, affects about 1 in 2000 children. While some cases are caused by known genetic variants or chromosomal abnormalities, there are many rare mutations in over 60 known genes. Genome sequencing is being used more frequently for diagnosing rare diseases, but the analysis of the data is time-consuming and requires a trade-off between sensitivity and precision. PanelApp, a crowd-sourced gene panel, helps prioritize variants in known disease genes and improve the detection of true-positive cases. Regular updates are necessary to avoid missing diagnoses for heterogeneous disorders like craniosynostosis.
Article
Genetics & Heredity
Rosario Ramos-Mejia, Karen E. Heath, Silvia Modamio-Hoybjor, Victoria Huckstadt, Julian Calcagni, Rodrigo Remondino, Virginia Fano
Summary: Autosomal dominant spondylometaphyseal dysplasia Sutcliff type or corner fracture type FN1-related is a rare genetic disorder characterized by skeletal abnormalities resembling fractures, developmental coxa vara, and vertebral changes. This paper reports the first case of SMD-CF FN1-related accompanied by odontoid anomalies.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2023)
Meeting Abstract
Endocrinology & Metabolism
Carmen Rodriguez Barrios, Jesus Dominguez Riscart, Ana Garcia Zarzuela, Paola Arellano Ruis, Karen Heath, Alfonso M. Lechuga-Sancho
HORMONE RESEARCH IN PAEDIATRICS
(2022)
Meeting Abstract
Biotechnology & Applied Microbiology
David Favre, Stephanie Sarrazy-Garcia, Pauline Gillino, Blandine Madji-Hounoum, Amelie Tison, Ashaina Vandenberghe, Francisca Diaz-Gonzalez, Karen E. Heath, Elvire Gouze
Meeting Abstract
Biochemistry & Molecular Biology
Arrate Pereda, Yerai Vado, Karen E. Heath, Jesus Pozoroman, Maria Angeles Santos-Mata, Elena Artola, Guiomar Perez De Nanclares
EUROPEAN JOURNAL OF HUMAN GENETICS
(2022)
Meeting Abstract
Biochemistry & Molecular Biology
Rebecca S. Tooze, Zerin Hyder, Eduardo Calpena, Yang Pei, Stephen R. F. Twigg, Deirdre Cilliers, Jenny E. V. Morton, Emma McCann, Astrid Weber, Louise C. Wilson, Anna Need, Andrew Bond, Ana Lisa Taylor Tavares, Helen Brittain, Ellen Thomas, Sue L. Hill, Zandra C. Deans, Freya Boardman-Pretty, Mark Caulfield, Richard H. Scott, Andrew O. M. Wilkie
EUROPEAN JOURNAL OF HUMAN GENETICS
(2022)
Meeting Abstract
Biochemistry & Molecular Biology
Andre M. Travessa, Silvia Modamio-Hoybjor, Karen E. Heath, Ana Berta Sousa
EUROPEAN JOURNAL OF HUMAN GENETICS
(2022)
Meeting Abstract
Biochemistry & Molecular Biology
Angel Campos-Barros, Elena Vallespin, Karen E. Heath, Angela Del Pozo, Mario Solis, Isabel Gonzalez-Casado, Paula Casano, Isabel R. Martinez-Orga, Maria Fernandez-Elvira, Victoria E. Fernandez-Montano
EUROPEAN JOURNAL OF HUMAN GENETICS
(2022)