A Novel Mutation in a Family With Multiple Endocrine Neoplasia Type 1 and Aggressive Pancreatic Neuroendocrine Tumors

Authors: Talita Fischer Oliveira, MD, MSc, Humberto Batista Ferreira, MD, MSc, Luís Henrique Dias Lima, MD, Anna Luiza Braga Albuquerque, Juliana Beaudette Drummond, MD, PhD, Beatriz Santana Soares, MD, PhD

Source: AACE Clinical Case Reports, Vol 11, Iss 2, Pp 126-130 (2025)

Subject Terms: multiple endocrine neoplasia type 1, MEN1 gene, Menin protein, new pathogenic variant, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2376060524001433; https://doaj.org/toc/2376-0605

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Heterozygous mutation in BRCA2 induces accelerated age-dependent decline in sperm quality with male subfertility in rats

Authors: Yashiro Motooka, Hideaki Tanaka, Yuki Maeda, Misako Katabuchi, Tomoji Mashimo, Shinya Toyokuni

Source: Scientific Reports, Vol 15, Iss 1, Pp 1-17 (2025)

Subject Terms: BRCA2 exon 11, Pathogenic variant, Heterozygote, Spermatogenesis, Aging, Male subfertility, Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/2045-2322

Access URL: https://doaj.org/article/a4f8692d33a642efa4439f54bfabf929

The breast cancer genetic testing experience: probing the potential utility of an online decision aid in risk perception and decision making

Authors: Anna Vaynrub, Brian Salazar, Yilin Eileen Feng, Harry West, Alissa Michel, Subiksha Umakanth, Katherine D. Crew, Rita Kukafka

Source: BMC Cancer, Vol 25, Iss 1, Pp 1-13 (2025)

Subject Terms: Genetic testing, Breast cancer, BRCA 1/2, Pathogenic variant, Decision aid, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

File Description: electronic resource

Relation: https://doaj.org/toc/1471-2407

Access URL: https://doaj.org/article/3a2b7562c0c749349f31bc5158eeb3b7

Increased response to granulocyte-macrophage colony-stimulating factor in peripheral blood cells and transient manifestations mimicking juvenile myelomonocytic leukemia in a male patient with NEMO deficiency caused by a deep intronic pathogenic variant of IKBKG

Authors: Masahiro Ueki, Shinsuke Hirabayashi, Yoshitaka Honda, Shunichiro Takezaki, Hiroki Ohata, Shimaa Said Mohamed Ali Abdrabou, Saori Sawai, Yukayo Terashita, Yuko Cho, Hideki Muramatsu, Kazushi Izawa, Takahiro Yasumi, Yoshiyuki Takahashi, Masafumi Yamada, Atsushi Manabe

Source: Immunological Medicine, Pp 1-8 (2024)

Subject Terms: JMML, NEMO deficiency, deep intronic pathogenic variant, RAS signaling hyperactivation, GM-CSF hypersensitivity, Immunologic diseases. Allergy, RC581-607

File Description: electronic resource

Relation: https://doaj.org/toc/2578-5826

Access URL: https://doaj.org/article/f35d67264e9c4ebcb28f1c167bfcc122

Endocrinological features and epileptic encephalopathy in COX deficiency due to SCO1 mutations: case series and review of literature

Authors: Alessandro Barbato, Giulia Gori, Michele Sacchini, Francesca Pochiero, Sara Bargiacchi, Giovanna Traficante, Viviana Palazzo, Lucia Tiberi, Claudia Bianchini, Davide Mei, Elena Parrini, Tiziana Pisano, Elena Procopio, Renzo Guerrini, Angela Peron, Stefano Stagi

Source: Endocrine Connections, Vol 13, Iss 10, Pp 1-9 (2024)

Subject Terms: cox deficiency, developmental epileptic encephalopathy phenotypes, epilepsy, growth, hypopituitarism, pathogenic variant, sco1 gene, short stature, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

File Description: electronic resource

Relation: https://ec.bioscientifica.com/view/journals/ec/13/10/EC-24-0221.xml; https://doaj.org/toc/2049-3614

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Spastic Paraplegia Type 78 Associated With ATP13A2 Gene Variants in Compound Heterozygosity

Authors: R. Bermejo Ramírez, N. Villena Gascó, L. Ruiz Palmero, G. A. Ribes Bueno, E. Seiti Yamanaka, J. D. Arroyo Andújar

Source: Molecular Genetics & Genomic Medicine, Vol 13, Iss 2, Pp n/a-n/a (2025)

Subject Terms: ATP13A2, hereditary spastic paraplegia, pathogenic variant, spastic paraplegia type 78, whole‐exome sequencing, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2324-9269

Access URL: https://doaj.org/article/cfa9c9c35d3d4878869cbb6c95d41065

Case Report: Craniofacial deafness hand syndrome with unusual cardiovascular symptoms and lack of holistic care

Authors: Samantha Saenz Hinojosa, Carlos Reyes-Silva, Kazuyoshi Hosomichi, Vanessa I. Romero

Source: Frontiers in Genetics, Vol 15 (2025)

Subject Terms: PAX3 variation, pulmonary hypertension, patent ductus arteriosus, pathogenic variant, Ecuador, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2024.1354632/full; https://doaj.org/toc/1664-8021

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Uncovering a novel SERPING1 pathogenic variant: insights into the aggregation of C1-INH in hereditary angioedema

Authors: Lingxi Jiang, Chao Dai, Suyang Duan, Tingting Wang, Chunbao Xie, Luhan Zhang, Zimeng Ye, Xiumei Ma, Yi Shi

Source: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-14 (2024)

Subject Terms: Apoptosis, Ca2+ overload, C1-INH, Hereditary angioedema, SERPING1 pathogenic variant, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/08a069339afb4091bfc55ebc7e2c314a

A large-scale screening identified in USH2A gene the P3272L founder pathogenic variant explaining familial Usher syndrome in Sardinia, Italy

Authors: Rita Serra, Vincenzo Rallo, Maristella Steri, Stefania Olla, Maria Grazia Piras, Michele Marongiu, Myriam Gorospe, David Schlessinger, Antonio Pinna, Edoardo Fiorillo, Francesco Cucca, Andrea Angius

Source: BMC Ophthalmology, Vol 24, Iss 1, Pp 1-9 (2024)

Subject Terms: Usher syndrome, USH2A gene, Pathogenic variant, Sardinia Founder effect, Molecular screening, Ophthalmology, RE1-994

File Description: electronic resource

Relation: https://doaj.org/toc/1471-2415

Access URL: https://doaj.org/article/4b4dde0c7d4e4c11911ccdfe6bc78aa8

Pathogenic variants in the fibronectin type III domain of leptin receptor: Molecular dynamics simulation and structural analysis

Authors: Kato, Takashi ^a, Matsuzawa, Fumiko ^b, Shojima, Nobuhiro ^a, Yamauchi, Toshimasa ^{a, ⁎}

Source: In Journal of Molecular Graphics and Modelling March 2025 135

High Rates of Germline Pathogenic Variants in Somali Patients with Ovarian Cancer

Authors: José V. Somohano-Short, Natasha Crawford, Mahmoud A. Khalifa, Britt K. Erickson

Source: Gynecologic Oncology Reports, Vol 56, Iss , Pp 101538- (2024)

Subject Terms: BRIP1 pathogenic variant, Ovarian cancer, Somali women, Germline testing, Healthcare disparities, Genetic screening, Gynecology and obstetrics, RG1-991, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2352578924002170; https://doaj.org/toc/2352-5789

Access URL: https://doaj.org/article/f9334e7a304d43a385ce4f846a276324

Epigenetic Study of Cohort of Monozygotic Twins With Hypertrophic Cardiomyopathy Due to MYBPC3 (Cardiac Myosin‐Binding Protein C)

Authors: Alfonso Peñarroya, Rebeca Lorca, José Julián Rodríguez Reguero, Juan Gómez, Pablo Avanzas, Juan Ramon Tejedor, Agustín F. Fernandez, Mario F. Fraga

Source: Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 13, Iss 21 (2024)

Subject Terms: DNA methylation, epigenetics, HCM, monozygotic twins, MYBPC3 pathogenic variant, phenotypic expressivity, Diseases of the circulatory (Cardiovascular) system, RC666-701

File Description: electronic resource

Relation: https://doaj.org/toc/2047-9980

Access URL: https://doaj.org/article/46e63391c45c41ae8d0a7886775cb27e

Germline genetic testing reveals pathogenic variants in uterine serous carcinoma patients

Authors: Katelyn Tondo-Steele, Kara J. Milliron, Jean H. Siedel, Shitanshu Uppal, Sofia D. Merajver, Karen McLean

Source: Gynecologic Oncology Reports, Vol 55, Iss , Pp 101498- (2024)

Subject Terms: Genetic testing, Genetic counseling, Pathogenic variant, Uterine serous carcinoma, BRCA, Gynecology and obstetrics, RG1-991, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2352578924001772; https://doaj.org/toc/2352-5789

Access URL: https://doaj.org/article/11d9ba34d5b74130af7c5cd8e3b416cd

A p.N92K variant of the GTPase RAC3 disrupts cortical neuron migration and axon elongation

Authors: Sugawara, Ryota ^{1, 2, ‡}, Hamada, Keisuke ^{3, ‡}, Ito, Hidenori ¹, Scala, Marcello ^{4, 5}, Ueda, Hiroshi ^{2, 6}, Tabata, Hidenori ¹, Ogata, Kazuhiro ^{3, ∗}, Nagata, Koh-ichi ^{1, 7, ∗}

Source: In Journal of Biological Chemistry April 2025 301(4)

A de novo pathogenic variant in MICAL‐1 causes epilepsy with auditory features

Authors: Paolo Bonanni, Roberto Giorda, Roberto Michelucci, Carlo Nobile, Emanuela Dazzo

Source: Epilepsia Open, Vol 9, Iss 3, Pp 1083-1087 (2024)

Subject Terms: epilepsy with auditory features (EAF), genetics, MICAL‐1 oxidoreductase activity, novel pathogenic variant, sporadic patient, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://doaj.org/toc/2470-9239

Access URL: https://doaj.org/article/fba9aeeb63c0474aa75db944c18d6882

Identification of the pathogenic variants in two Chinese patients with primary ciliary dyskinesia

Authors: ZHENG Haixia, ZHOU Wangji, TIAN Xinlun, LIU Yaping

Source: Jichu yixue yu linchuang, Vol 44, Iss 5, Pp 677-682 (2024)

Subject Terms: primary ciliary dyskinesia, whole exome sequencing, pathogenic variant, Medicine

File Description: electronic resource

Relation: http://journal11.magtechjournal.com/Jwk_jcyxylc/fileup/1001-6325/PDF/1001-6325-2024-44-5-677.pdf; https://doaj.org/toc/1001-6325

Access URL: https://doaj.org/article/7dd9f9b0a9fd4412b365da5ccb506f8e

Developmental and Epileptic Encephalopathy: Pathogenesis of Intellectual Disability Beyond Channelopathies

Authors: Alexandra D. Medyanik, Polina E. Anisimova, Angelina O. Kustova, Victor S. Tarabykin, Elena V. Kondakova

Source: Biomolecules, Vol 15, Iss 1, p 133 (2025)

Subject Terms: neurodevelopmental disorders, developmental delay, metabolic disorders, synaptopathies, malformations of cortical development, pathogenic variant, Microbiology, QR1-502

File Description: electronic resource

Relation: https://www.mdpi.com/2218-273X/15/1/133; https://doaj.org/toc/2218-273X

Access URL: https://doaj.org/article/76b666dfa4b34e9ba0cb3fef7e79890c

Magnetic Resonance Imaging–based Prostate Cancer Screening in Carriers of Pathogenic Germline Mutations: Interim Results from the Initial Screening Round of the Prostate Cancer Genetic Risk Evaluation and Screening Study

Authors: Amini, Andrew E. ^a, Hunter, Alexandra E. ^a, Almashad, Aya ^a, Feng, Aileen J. ^a, Patel, Neel D. ^a, O'Dea, Margaret R ^a, McCormick, Shelley R. ^b, Rodgers, Linda H. ^b, Salari, Keyan ^{a, b, c, d, ⁎}

Source: In European Urology Oncology December 2024 7(6):1358-1366

Disruption of CAD Oligomerization by Pathogenic Variants

Authors: Del Caño-Ochoa, Francisco ^{1, ⁎}, Ramadane-Morchadi, Lobna ², Eixerés, Lluís ¹, Moreno-Morcillo, María ³, Fernández-Leiro, Rafael ³, Ramón-Maiques, Santiago ^{1, 4, 5, ⁎}

Source: In Journal of Molecular Biology 1 December 2024 436(23)

Case report: Novel germline c.587delA pathogenic variant in familial multiple endocrine neoplasia type 1

Authors: Haotian Huang, Jianwei Li, Kun Zhang, Yu Tang, Min Zhang, Zhen Fan, Tao Wang, Yaoxia Liu

Source: Frontiers in Endocrinology, Vol 15 (2024)

Subject Terms: multiple endocrine neoplasia type 1, MEN1 gene, menin, pathogenic variant, pediatric endocrinology, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fendo.2024.1467882/full; https://doaj.org/toc/1664-2392

Access URL: https://doaj.org/article/78b993f0fa554640b072bba0fef6ff34