Review
Oncology
Zhibin Cui, Hyunseok Kang, Jennifer R. Grandis, Daniel E. Johnson
Summary: Genetic alterations in the CYLD gene are associated with tumor formation in CYLD cutaneous syndrome, with somatic mutations found in multiple human cancers. In HPV-associated cancers, CYLD alterations are more common in HPV-positive cases. The CYLD enzyme functions to disassemble key protein complexes and deactivate growth-promoting signaling pathways, with loss-of-function mutations leading to aberrant activation of these pathways.
MOLECULAR CANCER RESEARCH
(2021)
Article
Surgery
Patricia Esther Engels, Elmar Fritsche, Gunther Pabst, Urs Hug
Summary: Brooke-Spiegler Syndrome (BSS) is a rare autosomal dominant hereditary disease caused by mutations in the CYLD gene, leading to predisposition to multiple skin appendage tumors. The primary manifestation of BSS is cylindromas on the scalp, and involvement of major and minor salivary glands is rare.
JOURNAL OF CRANIOFACIAL SURGERY
(2021)
Article
Multidisciplinary Sciences
Alexandra M. Cheney, Stephanann M. Costello, Nicholas V. Pinkham, Annie Waldum, Susan C. Broadaway, Maria Cotrina-Vidal, Marc Mergy, Brian Tripet, Douglas J. Kominsky, Heather M. Grifka-Walk, Horacio Kaufmann, Lucy Norcliffe-Kaufmann, Jesse T. Peach, Brian Bothner, Frances Lefcort, Valerie Copie, Seth T. Walk
Summary: This study finds that the gut-metabolism axis is altered in patients with familial dysautonomia (FD) and transgenic mice. Controlling microbiome divergence can ameliorate the disease pathology. These findings suggest that the gut microbiome and metabolome are altered and dysfunctional in FD patients compared to healthy individuals.
NATURE COMMUNICATIONS
(2023)
Article
Dermatology
Judit Danis, Evelyn Kelemen, Neil Rajan, Nikoletta Nagy, Marta Szell, Eva Adam
Summary: Hungarian and Anglo-Saxon pedigrees affected by CYLD cutaneous syndrome exhibit different phenotypes despite carrying the same disease-causing mutation. Missense genetic variants of TRAF3 and NBR1 genes were identified in the Hungarian pedigree but not in the Anglo-Saxon pedigree, suggesting their role as phenotype-modifying factors. Experimental findings indicate that increased expression of TRAF3 and NBR1 proteins further enhances the effect of the CYLD mutation on NF-kappa B activity, potentially explaining phenotypic differences in CYLD cutaneous syndrome.
EXPERIMENTAL DERMATOLOGY
(2021)
Article
Genetics & Heredity
Khalid Al-Waili, Khalid Al-Rasadi, Muna Al-Bulushi, Mohammed Habais, Abdullah Al-Mujaini, Saif Al-Yaarubi, Antoine Rimbert, Razan Zadjali, Pegah Moradi Khaniabadi, Hamida Al-Barwani, Sana Hasary, Zayana M. Al-Dahmani, Hala Al-Badi, Almundher Al-Maawali, Fahad Zadjali
Summary: This study identified novel genetic mutations in F-HTG patients of Arab ancestry in Oman, suggesting a founder effect and genetic uniqueness in this population. These findings highlight the importance of further analysis and counseling for F-HTG patients in the Middle East, particularly in populations with high rates of consanguinity.
FRONTIERS IN GENETICS
(2022)
Review
Pharmacology & Pharmacy
Negin Parsamanesh, Omid Kooshkaki, Haleh Siami, Raul D. Santos, Tannaz Jamialahmadi, Amirhossein Sahebkar
Summary: Familial hypercholesterolemia (FH) is a hereditary illness characterized by high risk of early cardiovascular disease and elevated levels of LDL cholesterol. FH is caused by mutations in genes such as LDL receptor, apolipoprotein B, PCSK9, and LDLR adaptor protein 1. Traditional lipid-lowering therapies have limited effectiveness for FH, especially in homozygous patients. This review discusses gene delivery, gene editing, and stem cell techniques used to correct FH-causing gene variations, including the use of CRISPR/Cas9 gene editing technology.
DRUG DISCOVERY TODAY
(2023)
Article
Clinical Neurology
Elli Katharine Greisenegger, Sara Llufriu, Angel Chamorro, Alvaro Cervera, Adriano Jimenez-Escrig, Klemens Rappersberger, Wolfgang Marik, Stefan Greisenegger, Elisabeth Stoegmann, Tamara Kopp, Tim M. Strom, Joerg Henes, Anne Joutel, Alexander Zimprich
Summary: Sneddon syndrome is a rare disorder that affects small and medium-sized blood vessels, characterized by livedo reticularis and stroke. Research findings suggest that impaired NOTCH3 signaling is a potential disease mechanism and bi-allelic loss-of-function mutations in NOTCH3 may be a cause of familial stroke in Sneddon syndrome.
JOURNAL OF NEUROLOGY
(2021)
Article
Clinical Neurology
Seondeuk Kim, Jangsup Moon, Keun-Hwa Jung, Seon-Jae Anh, Han Sang Lee, Yoonhyuk Jang, Kyung-Il Park, Sang Kun Lee, Kon Chu
Summary: This study retrospectively analyzed the genetic tests of clinical FCCM patients and found that brainstem lesions could be a radiologic marker for FCCM with the mutation detected. The age-related disease burden regarding FCCM was also demonstrated according to genetic information.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
(2023)
Article
Pediatrics
Tero Varimo, Anna-Pauliina Iivonen, Johanna Kansakoski, Karoliina Wehkalampi, Matti Hero, Kirsi Vaaralahti, Paivi J. Miettinen, Marek Niedziela, Taneli Raivio
Summary: This study described the clinical and genetic features of CPP patients with paternally inherited MKRN3 mutations in two families, as well as the treatment methods and outcomes for these cases. Two novel MKRN3 mutations were identified in the patients, with one girl responding positively to GnRH analog treatment while the boy achieved his target height without treatment.
PEDIATRIC RESEARCH
(2021)
Review
Medicine, General & Internal
Marianne Abifadel, Catherine Boileau
Summary: Atherosclerotic cardiovascular disease is a major cause of death worldwide, and familial hypercholesterolemia (FH) is a commonly inherited disease with significant risks. Advances in genetic research have greatly improved the diagnosis and treatment of FH, providing more therapeutic options.
JOURNAL OF INTERNAL MEDICINE
(2023)
Review
Endocrinology & Metabolism
Oscar Francisco Chacon-Camacho, Glustein Pozo-Molina, Claudia Fabiola Mendez-Catala, Julia Reyes-Reali, Rene Mendez-Cruz, Juan Carlos Zenteno
Summary: Knowledge of familial hypercholesterolemia has increased in the past two decades, with genetic screening being introduced in many European countries for early detection and management of the disease.
ENDOCRINE METABOLIC & IMMUNE DISORDERS-DRUG TARGETS
(2022)
Review
Medicine, General & Internal
Jie Li, Li-Na Chen, Hai-Lan He
Summary: CDKN1C mutations can lead to SRS without limb asymmetry and adrenal insufficiency. In familial SRS patients, the PCNA region of CDKN1C should be analyzed to identify functional mutations and exclude adrenal insufficiency.
WORLD JOURNAL OF CLINICAL CASES
(2023)
Review
Medicine, General & Internal
Qingan Fu, Lijuan Hu, Tianzhou Shen, Renqiang Yang, Long Jiang
Summary: The rapid development of gene therapy technology is expected to change the treatment status of FH patients. Emerging gene therapy vectors and RNA-targeted therapies have shown excellent lipid-lowering effects. Using gene editing technologies, patients with FH are expected to reach a permanent cure.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Gastroenterology & Hepatology
Cheng-Cheng He, Shan-Ping Wang, Pei-Rong Zhou, Zhi-Jun Li, Na Li, Ming-Song Li
Summary: SRUS is a rare rectal disease with unknown etiology. This study reports the first case of SRUS in a mother-son relationship. Gene sequencing revealed an inherited CHEK2 p.H371Y mutation, which affects the function of CHEK2 and leads to changes in the expression levels of downstream genes such as CDC25A.
WORLD JOURNAL OF GASTROENTEROLOGY
(2023)
Review
Rheumatology
Eldad Ben-Chetrit
Summary: Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disease characterized by recurrent attacks of fever and polyserositis. Significant progress has been made over the years in understanding FMF's clinical features, diagnosis, mode of inheritance, pathogenesis, and therapeutic approach. However, many old paradigms have proven inaccurate, leading to the emergence of new concepts and more precise insights.
Article
Dermatology
Lajos Kemeny, Lovisa Berggren, Martin Dossenbach, Yves Dutronc, Carle Paul
JOURNAL OF DERMATOLOGICAL TREATMENT
(2019)
Article
Sport Sciences
Gyozo Szolnoky, Henriette Gavaller, Anna Gonczy, Imre Bihari, Lajos Kemeny, Tamas Forster, Attila Nemes
Summary: The application of graduated medical compression stockings with different pressures can significantly reduce aortic pulse wave velocity, indicating a beneficial cardiovascular influence.
JOURNAL OF STRENGTH AND CONDITIONING RESEARCH
(2021)
Letter
Dermatology
Gunes Cakmak Genc, Ahmet Dursun, Nikoletta Nagy, Ayca Celikmakas, Burcin Acuner
AMERICAN JOURNAL OF DERMATOPATHOLOGY
(2019)
Article
Pediatrics
Eva David, Dora Torok, Katalin Farkas, Nikoletta Nagy, Emese Horvath, Zsuzsanna Kiss, Gyorgy Oroszlan, Marta Balogh, Marta Szell
Review
Biotechnology & Applied Microbiology
Melinda Zombor, Tibor Kalmar, Nikoletta Nagy, Marianne Berenyi, Borbala Telcs, Zoltan Maroti, Oliver Brandau, Laszlo Sztriha
JOURNAL OF APPLIED GENETICS
(2019)
Article
Dermatology
B. Gal, A. Goblos, J. Danis, K. Farkas, A. Sulak, E. Varga, N. Nagy, M. Szell, L. Kemeny, Z. Bata-Csorgo
JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY
(2019)
Meeting Abstract
Dermatology
E. Pap, K. Farkas, L. Toth, B. Fabos, G. Nemeth, N. Nagy, M. Szell
JOURNAL OF INVESTIGATIVE DERMATOLOGY
(2019)
Meeting Abstract
Dermatology
K. Farkas, N. Rajan, E. Pap, M. Szell, G. Nemeth, N. Nagy
JOURNAL OF INVESTIGATIVE DERMATOLOGY
(2019)
Editorial Material
Dermatology
S. Sarikaya Solak, S. Yalcintepe, C. Atahan, N. Nagy, N. Can
CLINICAL AND EXPERIMENTAL DERMATOLOGY
(2020)
Article
Dermatology
E. M. Pap, K. Farkas, L. Toth, B. Fabos, M. Szell, G. Nemeth, N. Nagy
CLINICAL AND EXPERIMENTAL DERMATOLOGY
(2020)
Article
Dermatology
Eva Melinda Pap, Katalin Farkas, Marta Szell, Gabor Nemeth, Neil Rajan, Nikoletta Nagy
EXPERIMENTAL DERMATOLOGY
(2020)
Article
Dermatology
Judit Danis, Evelyn Kelemen, Neil Rajan, Nikoletta Nagy, Marta Szell, Eva Adam
Summary: Hungarian and Anglo-Saxon pedigrees affected by CYLD cutaneous syndrome exhibit different phenotypes despite carrying the same disease-causing mutation. Missense genetic variants of TRAF3 and NBR1 genes were identified in the Hungarian pedigree but not in the Anglo-Saxon pedigree, suggesting their role as phenotype-modifying factors. Experimental findings indicate that increased expression of TRAF3 and NBR1 proteins further enhances the effect of the CYLD mutation on NF-kappa B activity, potentially explaining phenotypic differences in CYLD cutaneous syndrome.
EXPERIMENTAL DERMATOLOGY
(2021)
Article
Biology
Palma Anker, Norbert Kiss, Istvan Kocsis, Eva Czemmel, Krisztina Becker, Sara Zakarias, Dora Plazar, Klara Farkas, Balazs Mayer, Nikoletta Nagy, Marta Szell, Nandor Acs, Zsuzsanna Szalai, Marta Medvecz
Summary: Collodion baby is a congenital condition often associated with autosomal recessive congenital ichthyosis, with genetic mutations playing a key role in determining the severity and outcome of the disease. Skin changes and genetic sequencing can provide valuable insights into the condition, allowing for better understanding and management of the disease.
Letter
Dermatology
Agnes Kinyo, Andras Laszlo Kovacs, Peter Degrell, Endre Kalman, Nikoletta Nagy, Sarolta Karpati, Rolland Gyulai, Amir Hossein Saeidian, Leila Youssefian, Hassan Vahidnezhad, Jouni Uitto
JOURNAL OF INVESTIGATIVE DERMATOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Margit Pal, Eva Vetro, Nikoletta Nagy, Dora Nagy, Emese Horvath, Barbara Anna Bokor, Anita Varga, Laszlo Seres, Judit Olah, Jozsef Piffko, Marta Szell
Summary: Basal cell nevus syndrome (BCNS) is a familial cancer syndrome characterized by the development of multiple basal cell cancers and various developmental abnormalities. It has autosomal dominant inheritance and is caused by mutations in the PTCH1 and SUFU genes. In a study of 11 Hungarian families with BCNS, whole-exome sequencing and multiplex ligation-dependent probe amplification identified novel and recurrent pathogenic variants in the PTCH1 gene, but not in the SUFU and PTCH2 genes. Additional methods such as whole-genome sequencing or epigenetic approaches may be needed to uncover the remaining genetic background of BCNS.
CURRENT ISSUES IN MOLECULAR BIOLOGY
(2023)