☆ 3.9 Article

No mutation in genes of the WNT signaling pathway in patients with Zimmermann-Laband syndrome

CLINICAL DYSMORPHOLOGY (2008)

Journal

CLINICAL DYSMORPHOLOGY

Volume 17, Issue 3, Pages 181-185

Publisher

LIPPINCOTT WILLIAMS & WILKINS

DOI: 10.1097/MCD.0b013e3282f2514c

Keywords

-

Categories

Genetics & Heredity

Ask authors/readers for more resources

Protocol

Community support

Reagent

Community support

Authors

I am an author on this paper

Click your name to claim this paper and add it to your profile.

Reviews

Primary Rating

3.9

Not enough ratings

Secondary Ratings

Novelty

-

Significance

-

Scientific rigor

-

Rate this paper

Recommended

Article Genetics & Heredity

Patients with KCNH1-related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndrome

Marion Aubert Mucca, Olivier Patat, Sandra Whalen, Lionel Arnaud, Giulia Barcia, Julien Buratti, Benjamin Cogne, Diane Doummar, Caroline Karsenty, Sandra Kenis, Eric Leguern, Gaetan Lesca, Caroline Nava, Mathilde Nizon, Amelie Piton, Stephanie Valence, Laurent Villard, Sarah Weckhuysen, Boris Keren, Cyril Mignot

Summary: De novo missense variants in KCNH1 cause Temple-Baraitser syndrome (TBS) and Zimmermann-Laband syndrome (ZLS), which overlap clinically and suggest a spectrum of KCNH1-related encephalopathies. Affected patients exhibit severe intellectual disability, hypertrichosis, and distinctive features such as gingival hyperplasia and nail hypoplasia/aplasia. A study identified pathogenic KCNH1 variants in patients with atypical features expanding the phenotypical spectrum of KCNH1-related encephalopathies.

JOURNAL OF MEDICAL GENETICS (2022)

Add to Collection

Article Pediatrics

Zimmermann-Laband syndrome and infantile systemic hyalinosis: an enigma with two separate terms with overlapping features: a case report

Fatemeh Owlia, Alireza Navabazam, Mohammad-Hasan Akhavan-Karbasi, Mohammad Moein Derakhshan Barjoei

Summary: Zimmermann-Laband Syndrome (ZLS) and infantile systemic hyalinosis (ISH) are rare genetic disorders characterized by various manifestations. This case report presents a patient with features of both syndromes, including gingival overgrowth and multiple papulonodular cutaneous lesions. The gingival overgrowth was successfully treated surgically under general anesthesia, resulting in improvement in mastication and breathing problems as well as aesthetic appearance.

BMC PEDIATRICS (2023)

Add to Collection

Article Oncology

Molecular Classification of Hepatocellular Carcinoma Using Wnt-Hippo Signaling Pathway-Related Genes

Ya-Sian Chang, Yu-Pao Chou, Chin-Chun Chung, Ya-Ting Lee, Ju-Chen Yen, Long-Bin Jeng, Jan-Gowth Chang

Summary: This study characterized the molecular features of hepatocellular carcinoma (HCC) in Taiwan using a newly developed classification system based on the expression of Wnt-Hippo signaling pathway-related genes. The study identified four subclasses of HCC and analyzed their characteristics in terms of gene expression, clinical features, and prognosis. The study also identified signaling pathway-related genes that may influence immune cell infiltration. This novel molecular classification system may provide new insights for the treatment of HCC.

CANCERS (2022)

Add to Collection

Article Oncology

Wnt signaling pathway in cancer immunotherapy

Yang Zhou, Jiang Xu, Haichang Luo, Xiangjing Meng, Ming Chen, Di Zhu

Summary: Abnormal activation of the Wnt/beta-catenin signaling pathway is closely related to tumorigenesis and immune surveillance, leading to increased resistance to immunotherapy.

CANCER LETTERS (2022)

Add to Collection

Article Genetics & Heredity

Zimmermann-Laband syndrome in monozygotic twins with a mild neurobehavioral phenotype lacking gingival overgrowth-A case report of a novel KCNN3 gene variant

Martin Schwarz, Lukas Ryba, Anna Krepelova, Veronika Moslerova, Michaela Zelinova, Marek Turnovec, Julia Martinkova, Lenka Kratochvilova, Martin Drahansky, Milan Macek, Marketa Havlovicova

Summary: Zimmermann-Laband syndrome is a rare genetic disorder characterized by gingival hypertrophy, nail abnormalities, intellectual disabilities, hypertrichosis, and distinctive facial features. A pair of female monozygotic twins with a novel pathogenic variant in the KCNN3 gene showed mild symptoms compared to previous cases, highlighting the importance of proper genetic counseling for patients and their families.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2022)

Add to Collection

Review Cell Biology

Wnt signaling pathway: A comprehensive review

Rabia Hayat, Maleeha Manzoor, Ali Hussain

Summary: Wnt signaling is an important evolutionary cell-to-cell coordination mechanism that plays a critical role in various physiological processes such as stem cell regeneration, cell division, and migration. This mechanism is regulated by a family of 19 proteins and can impact cellular processes through different pathways, with the Wnt/β-catenin signaling pathway playing a significant role in cancer progression.

CELL BIOLOGY INTERNATIONAL (2022)

Add to Collection

Article Public, Environmental & Occupational Health

FABP5 inhibitor SBFI-26 regulates FOXM1 expression and Wnt signaling pathway in ovarian granulosa cell of patients with polycystic ovary syndrome

Qunxian Cheng, Ling Xu

Summary: Polycystic ovary syndrome (PCOS) is a common endocrine disorder in women of reproductive age. The overexpression of FOXM1 in ovarian granulosa cells (OGC) of PCOS patients promotes cell proliferation through activation of the Wnt signaling pathway. A new FABP5 inhibitor, SBFI-26, has been found to downregulate FOXM1 expression and inhibit cell proliferation in PCOS-OGC cells, while also inactivating the Wnt signaling pathway. These findings provide a new perspective for the treatment of PCOS.

PREVENTIVE MEDICINE (2023)

Add to Collection

Review Biochemistry & Molecular Biology

Progress of Wnt Signaling Pathway in Osteoporosis

Yongguang Gao, Na Chen, Zhanda Fu, Qing Zhang

Summary: Osteoporosis is a serious health disease characterized by bone mass loss, bone density reduction, and degeneration of bone microstructure, leading to bone fragility and a higher risk of fracture. More than 200 million people worldwide suffer from this condition, with estimated treatment costs of at least $25 billion by 2025. The Wnt signaling pathway plays a crucial role in bone development, metabolism, and the differentiation and proliferation of bone-related cells. Inhibitory proteins Dkk-1 and SOST, which block the activation of the canonical Wnt signaling pathway, have potential as targets for osteoporosis treatment. This review provides an analysis of the mechanisms of Wnt proteins, beta-catenin, and signaling molecules, highlighting the importance of the Wnt signaling pathway in osteoporosis and offering new perspectives and approaches for diagnosis and treatment.

BIOMOLECULES (2023)

Add to Collection

Article Cell Biology

Metformin: A New Inhibitor of the Wnt Signaling Pathway in Cancer

Domenico Conza, Paola Mirra, Francesca Fiory, Luigi Insabato, Antonella Nicolo, Francesco Beguinot, Luca Ulianich

Summary: Metformin is a widely used drug for type 2 diabetes mellitus therapy, which not only lowers blood glucose levels but also improves various disease states and has anti-tumoral effects. Its anti-tumoral effects are mainly mediated by activating AMPK, but other signaling pathways are also involved.

CELLS (2023)

Add to Collection

Article Biochemistry & Molecular Biology

OTUD7B Activates Wnt Signaling Pathway through the Interaction with LEF1

Yuri Lee, Hai-long Piao, Jongchan Kim

Summary: The Wnt signaling pathway is crucial for regulating various cellular processes, and dysregulation of this pathway has been linked to human diseases, including cancer. In this study, researchers aimed to identify the deubiquitinases (DUBs) that regulate the pathway through the essential component LEF1. They discovered that OTUD7B interacts with LEF1 and activates Wnt signaling. Furthermore, OTUD7B promotes the nuclear localization of LEF1, leading to increased interaction with beta-catenin. This study suggests that OTUD7B may serve as a potential therapeutic target in diseases where Wnt signaling is dysregulated, such as cancer.

BIOMOLECULES (2023)

Add to Collection

Article Cell Biology

Lgr4 Regulates Oviductal Epithelial Secretion Through the WNT Signaling Pathway

Xue Tan, Lingling Zhang, Tianqi Li, Jianmin Zhan, Kun Qiao, Haili Wu, Shenfei Sun, Meina Huang, Fangxi Zhang, Meixing Zhang, Changwei Li, Runsheng Li, Hongjie Pan

Summary: The WNT signaling pathway plays a crucial role in the development of fallopian tubes in mice, with LGR4 regulating epithelial secretion and affecting tube size and cell number. This regulation is mediated by modulation of the WNT pathway and changes in gene expression profiles of epithelial cells. Additionally, activation of the WNT pathway triggers the expression of steroidogenic genes through the transcription factor NR5A2, facilitating epithelial secretory cell maturation and steroidogenesis for fallopian tube development and function.

FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY (2021)

Add to Collection

Review Cell Biology

The Wnt Signaling Pathway in Diabetic Nephropathy

Haiying Wang, Ran Zhang, Xinjie Wu, Yafen Chen, Wei Ji, Jingsuo Wang, Yawen Zhang, Yong Xia, Yiqun Tang, Jinxiang Yuan

Summary: Diabetic nephropathy is a serious kidney complication of diabetes that can lead to kidney failure. The role of the Wnt signaling pathway in regulating the development of diabetic nephropathy is significant.

FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY (2022)

Add to Collection

Article Medicine, Research & Experimental

FAM96A and FAM96B function as new tumor suppressor genes in breast cancer through regulation of the Wnt/13-catenin signaling pathway

Di -Di Zhang, Xiao-Lin Sun, Zhao-Yuan Liang, Xin-Ya Wang, Li-Na Zhang

Summary: This study found that FAM96A/B is down-regulated in breast cancer. Overexpression of FAM96A/B suppresses cell proliferation, invasion, and migration, induces apoptosis and causes cell cycle arrest in breast cancer cells. Conversely, knockdown of FAM96A/B has the opposite effects. Furthermore, it was demonstrated that FAM96A/B overexpression inhibits EMT and Wnt/13-catenin pathway, while FAM96A/B knockdown promotes EMT and Wnt/13-catenin pathway. These findings suggest that FAM96A/B may function as tumor suppressor genes and inhibit breast cancer progression by modulating the Wnt/13-catenin pathway.

LIFE SCIENCES (2022)

Add to Collection

Article Hematology

Circulating Wnt Ligands Activate the Wnt Signaling Pathway in Mature Erythrocytes

Ronen Siman-Tov, Natalie Zelikson, Michal Caspi, Yakir Levi, Chava Perry, Fayhaa Khair, Hagit Stauber, Josue Sznitman, Rina Rosin-Arbesfeld

Summary: This study demonstrates the expression of components of the noncanonical Wnt pathway in erythrocytes and shows that Wnt ligands can enhance the flexibility and strength of erythrocyte cytoskeleton, leading to prolonged survival in the circulation. The research also indicates that Wnt-5A ligand is secreted into plasma, with monocytes and lymphocytes as possible sources, highlighting potential new avenues for studying signaling pathways in the bloodstream.

ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY (2021)

Add to Collection

Article Biochemistry & Molecular Biology

Isogenic Human-Induced Pluripotent Stem-Cell-Derived Cardiomyocytes Reveal Activation of Wnt Signaling Pathways Underlying Intrinsic Cardiac Abnormalities in Rett Syndrome

Kwong-Man Ng, Qianqian Ding, Yiu-Lam Tse, Oscar Hou-In Chou, Wing-Hon Lai, Ka-Wing Au, Yee-Man Lau, Yue Ji, Chung-Wah Siu, Clara Sze-Man Tang, Alan Colman, Suk-Ying Tsang, Hung-Fat Tse

Summary: This study investigated the pathophysiological roles of MeCP2 mutations in the etiology of intrinsic cardiac abnormality in Rett syndrome. The findings suggest that MeCP2 mutations lead to up-regulation of Wnt family genes, which in turn affect the electrophysiological properties of cardiac cells. These results provide novel insights into the contribution of the Wnt/beta-catenin signaling cascade to the cardiac abnormalities associated with MeCP2 mutations in RTT.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2022)

Add to Collection

Article Genetics & Heredity

De novo double reciprocal translocations in addition to partial monosomy at another chromosome: A very rare case

Milena Simioni, Carlos Eduardo Steiner, Vera Lucia Gil-da-Silva-Lopes

GENE (2015)

Add to Collection

Article Genetics & Heredity

Clinical profile and molecular characterization of Galactosemia in Brazil: identification of seven novel mutations

Daniel F. Garcia, Jose S. Camelo, Greice A. Molfetta, Marlene Turcato, Carolina F. M. Souza, Gilda Porta, Carlos E. Steiner, Wilson A. Silva

BMC MEDICAL GENETICS (2016)

Add to Collection

Article Genetics & Heredity

CBS mutations are good predictors for B6-responsiveness: A study based on the analysis of 35 Brazilian Classical Homocystinuria patients

Soraia Poloni, Fernanda Sperb-Ludwig, Taciane Borsatto, Giovana Weber Hoss, Maria Juliana R. Doriqui, Emilia K. Embiruc, Ney Boa-Sorte, Charles Marques, Chong A. Kim, Carolina Fischinger Moura de Souza, Helio Rocha, Marcia Ribeiro, Carlos E. Steiner, Carolina A. Moreno, Pricila Bernardi, Eugenia Valadares, Osvaldo Artigalas, Gerson Carvalho, Hector Y. C. Wanderley, Johanna Kugele, Melanie Walter, Lorena Gallego-Villar, Henk J. Blom, Ida Vanessa D. Schwartz

MOLECULAR GENETICS & GENOMIC MEDICINE (2018)

Add to Collection

Article Genetics & Heredity

Clinical, cytogenetic, and molecular characterization of six patients with ring chromosomes 22, including one with concomitant 22q11.2 deletion

Roberta Santos Guilherme, Karina Cunha Soares, Milena Simioni, Tarsis Paiva Vieira, Vera Lucia Gil-da-Silva-Lopes, Chong Ae Kim, Decio Brunoni, Nancy Bettina Spinner, Laura Kathleen Conlin, Denise Maria Christofolini, Leslie Domenici Kulikowski, Carlos Eduardo Steiner, Maria Isabel Melaragno

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2014)

Add to Collection

Article Biochemistry & Molecular Biology

Enzyme replacement therapy for Mucopolysaccharidosis Type I among patients followed within the MPS Brazil Network

Alicia Dorneles Dornelles, Louise Lapagesse de Camargo Pinto, Ana Carolina de Paula, Carlos Eduardo Steiner, Charles Marques Lourenco, Chong Ae Kim, Dafne Dain Gandelman Horovitz, Erlane Marques Ribeiro, Eugenia Ribeiro Valadares, Isabela Goulart, Isabel C. Neves de Souza, Joao Ivanildo da Costa Neri, Luiz Carlos Santana-da-Silva, Luiz Roberto Silva, Marcia Ribeiro, Ruy Pires de Oliveira Sobrinho, Roberto Giugliani, Ida Vanessa Doederlein Schwartz

GENETICS AND MOLECULAR BIOLOGY (2014)

Add to Collection

Article Biochemistry & Molecular Biology

Breakpoint mapping at nucleotide resolution in X-autosome balanced translocations associated with clinical phenotypes

Mariana Moyses-Oliveira, Adriana Di-Battista, Malu Zamariolli, Vera Ayres Meloni, Silvia Bragagnolo, Denise Maria Christofolini, Carlos Eduardo Steiner, Nadezda Kosyakova, Thomas Liehr, Alexandre Reymond, Maria Isabel Melaragno

EUROPEAN JOURNAL OF HUMAN GENETICS (2019)

Add to Collection

Article Genetics & Heredity

Glycogen storage diseases: Twenty-seven new variants in a cohort of 125 patients

Fernanda Sperb-Ludwig, Franciele Cabral Pinheiro, Malu Bettio Soares, Tatiele Nalin, Erlane Marques Ribeiro, Carlos Eduardo Steiner, Eugenia Ribeiro Valadares, Gilda Porta, Carolina Fishinger Moura de Souza, Ida Vanessa Doederlein Schwartz

MOLECULAR GENETICS & GENOMIC MEDICINE (2019)

Add to Collection

Article Dermatology

Epidermolysis Bullosa Pruriginosa: An Unusual Presentation of a Simplex Variant

Lorena Visentainer, Laura Moya Kazmarek, Renata Ferreira Magalhaes, Carlos Eduardo Steiner, Mirian Nacagami Sotto, Maria Leticia Cintra, Elemir Macedo de Souza

AMERICAN JOURNAL OF DERMATOPATHOLOGY (2020)

Add to Collection

Article Genetics & Heredity

Schizophreniform presentation and abrupt neurologic decline in a patient with late-onset mucopolysaccharidosis type IIIB

Yorran Hardman Araujo Montenegro, Guilherme Baldo, Roberto Giugliani, Fabiano de Oliveira Poswar, Ruy Pires de Oliveira Sobrinho, Carlos Eduardo Steiner

Summary: Inborn errors of metabolism are often misdiagnosed or underdiagnosed due to their low frequency and atypical presentations, which complicates the correct management of patients. This case study highlights a patient with learning disabilities, psychiatric symptoms, and genetic mutations associated with mucopolysaccharidosis-III, emphasizing the importance of genetic evaluation in diagnosis and treatment.

PSYCHIATRIC GENETICS (2021)

Add to Collection

Article Genetics & Heredity

Sanfilippo syndrome type B: Analysis of patients diagnosed by the MPS Brazil Network

Yorran Hardman Araujo Montenegro, Carolina Fischinger Moura de Souza, Francyne Kubaski, Franciele Barbosa Trapp, Maira Graeff Burin, Kristiane Michelin-Tirelli, Sandra Leistner-Segal, Ana Carolina Brusius Facchin, Fernanda S. Medeiros, Luciana Giugliani, Erlane Marques Ribeiro, Charles Marques Lourenco, Augusto Cesar Cardoso-Dos-Santos, Marcia Goncalves Ribeiro, Chong Ae Kim, Matheus Augusto Araujo Castro, Emilia Katiane Embirucu, Carlos Eduardo Steiner, Maria Lucia Castro Moreira, Hector Quintero Montano, Guilherme Baldo, Roberto Giugliani

Summary: MPS IIIB is a rare autosomal recessive disorder characterized by deficiency of the enzyme NAGLU. A study in Brazil involving 110 patients diagnosed with MPS IIIB revealed that the average age at diagnosis was 10.9 years, with main clinical symptoms being coarse facies and neurocognitive regression. The study also found a possible cluster of MPS IIIB in Ecuador.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2022)

Add to Collection

Review Genetics & Heredity

Dual Molecular Diagnoses of Recessive Disorders in a Child from Consanguineous Parents: Case Report and Literature Review

Gabriela Roldao Correia-Costa, Ana Mondadori dos Santos, Nicole de Leeuw, Sumara Zuanazi Pinto Rigatto, Vera Maria Santoro Belangero, Carlos Eduardo Steiner, Vera Lucia Gil-da-Silva-Lopes, Tarsis Paiva Vieira

Summary: In this study, a child with primary microcephaly and nephropathic cystinosis was identified to have pathogenic variants in two genes through whole exome sequencing. This highlights the importance of searching for multilocus pathogenic variations in patients with complex phenotypes.

GENES (2022)

Add to Collection

Article Neurosciences

Sjogren-Lars son syndrome brain volumetric reductions demonstrated with an automated software

Jose Thiago de Souza de Castro, Camilo Lot fi Saab, Mariam Patricia Auada Souto, Juliane Giselle Ortolam, Carlos Eduardo Steiner, Thiago Junqueira Ribeiro de Rezende, Fabiano Reis

Summary: In this study, volumetric analysis of the brain was performed on two siblings with SLS, revealing volume reduction in deep grey matter nuclei, cerebellar grey matter, and brainstem. This suggests that SLS is not solely a leukoencephalopathy, but also involves dysfunction in thalamic motor pathways.

ARQUIVOS DE NEURO-PSIQUIATRIA (2023)

Add to Collection

Meeting Abstract Biochemistry & Molecular Biology

Whole Exome Sequencing in Brazilian individuals with intellectual disability, Neurodevelopmental Delay and (or) Multiple Congenital Anomalies with Copy Number Variants of Uncertain Clinical Significance detected by Chromosomal Microarray Analysis

S. Spineli-Silva, N. de Leeuw, A. P. dos Santos, N. Leijsten, M. H. A. Ruiterkamp-Versteeg, J. R. M. Prota, A. T. Maciel-Guerra, A. Marques-de-Faria, C. E. Steiner, V. L. Gil-da-Silva-Lopes, T. P. Vieira

EUROPEAN JOURNAL OF HUMAN GENETICS (2020)

Add to Collection

Article Dermatology

Clinical and Molecular Investigation of Familial Multiple Lipomatosis: Variants in the HMGA2 Gene

Diana Marcela Mejia Granados, Marcella Bergamini de Baptista, Luciana Cardoso Bonadia, Carmen Silvia Bertuzzo, Carlos Eduardo Steiner

CLINICAL COSMETIC AND INVESTIGATIONAL DERMATOLOGY (2020)

Add to Collection

Article Genetics & Heredity

Genomic Investigation of Balanced Chromosomal Rearrangements in Patients with Abnormal Phenotypes

Milena Simioni, Francois Artiguenave, Vincent Meyer, Ilaria C. Sgardioli, Nilma L. Viguetti-Campos, Isabella Lopes Monlleo, Andrea T. Maciel-Guerra, Carlos E. Steiner, Vera L. Gil-da-Silva-Lopes

MOLECULAR SYNDROMOLOGY (2017)

Add to Collection

No Data Available

© Peeref 2019-2024. All rights reserved.