Results 91 to 100 of about 284,664 (210)

Case Report: Hypomyelinating Leukodystrophy Type 20 (HLD20) With Novel CNP Gene Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This case report describes a child with hypomyelinating leukodystrophy type 20 (HLD20), a rare neurodegenerative disorder characterized by impaired myelin formation. The patient presented with multiple neurodevelopmental abnormalities, including delayed motor milestones, seizures, and abnormal facial features.
Malak Alghamdi, Ghaida Alghamdi, Khalid Hundallah, Dima Jamjoom, Naif Almontashiri, Essa Alharbi, Muhammad Umair, Majid Alfadhel   +7 more
wiley   +1 more source

Worth the Effort: Lessons for Discovery and Care From an Unusual Case of Gorlin Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gorlin‐Goltz Syndrome (GGS) is a rare autosomal dominant genetic disorder encompassing a diverse range of clinical manifestations, including congenital anomalies and predisposition to cancer. Pathogenic variants in PTCH1 and SUFU account for up to 79% and 6% of cases, respectively. Currently, an estimated 15%–27% of individuals with a clinical
V. Taliercio, J. Zhao, S. E. Boyden, R. Mao, P. Bayrak‐Toydemir, A. Pflaum, J. Palumbos, A. Andrews, E. E. Baldwin, C. Welt, Mackenzie Fait, Undiagnosed Diseases Network, L. D. Botto, D. Viskochil   +13 more
wiley   +1 more source

Dentofacial Malocclusion in Neurofibromatosis 1 in Finland

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Neurofibromatosis 1 (NF1) is an inherited disease that can be accompanied by oral health problems such as caries, periodontitis, and tumors affecting the oral cavity. Also, different maxillary and mandibular malformations are associated with NF1.
Vivian Reinhold, Mikko Valtanen, Kari Auranen, Stina Syrjänen, Sirkku Peltonen, Juha Peltonen, Roope A. Kallionpää   +6 more
wiley   +1 more source

Parental Communication With their Children about Cancer Risk and DTC Cascade Genetic Testing: Implications for Genetic Education and Counseling

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cascade genetic testing for cancer risk can influence relatives' health outcomes, as they may benefit from risk reduction and screening. However, clinical guidelines discourage predictive genetic testing in childhood—including direct‐to‐consumer (DTC) testing.
Marcelo M. Sleiman Jr., Talia Zamir, Beth N. Peshkin, Jada G. Hamilton, Mingqian Liu, Mary Rose Yockel, Benjamin Wilfond, Lainie Friedman Ross, Jamie Brower, Hannah Ovadia, Rosalba Sacca, Beth Tarini, Susan M. Domchek, Claudine Isaacs, Kenneth P. Tercyak   +14 more
wiley   +1 more source

Antiparallel β‐Sheet as a Key Motif of Amyloid‐β Inhibitor Designed via Topological Peptide Reprogramming

Angewandte Chemie, EarlyView.
Targeting Amyloid‐β (Aβ) aggregation requires a peptide‐based approach that accounts for the structural heterogeneity of Aβ. Here, we employ topological reprogramming via disulfide bonds to stabilize antiparallel β‐sheets within the dimeric peptide.
Dongjoon Im, Ye Eun Lee, Gyusub Yoon, William A. Goddard III, Tae Su Choi, Hugh I. Kim   +5 more
wiley   +2 more sources

Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The interstitial 6p microdeletion syndrome is characterized by dysmorphic facies and structural heart, kidney, brain, and musculoskeletal differences. RREB1 haploinsufficiency and consequent abnormal RAS‐MAPK pathway signaling have been proposed as a driver of the disease phenotype; however, apart from a single case report, the phenotype of ...
Alanna Strong, Caoimhe McKenna, Karen Stals, Antonio Vitobello, Mathilde Renaud, Claudine Rieubland, Michel Guipponi, Christophe Philippe, Paul Vrana, Alisa Gaskell, A. Micheil Innes, Alyssa L. Rippert, Rebecca Ahrens‐Nicklas, Elizabeth Bhoj, Kiersten Keller, Bimal P. Chaudhari, Brandon S. Stone   +16 more
wiley   +1 more source

A Mosaic Hotspot PLCD1 Variant, Detectable in Blood‐Derived DNA, Associated With Nevus Trichilemmocysticus

American Journal of Medical Genetics Part A, EarlyView.
Leanne de Kock, Macarena Nougues, Madeline Couse, Wendy Mears, Alison J. Eaton, Kristin D. Kernohan, Care4Rare Canada Consortium, Margarita Larralde, Kym M. Boycott   +8 more
wiley   +1 more source

Depression Symptom Trajectories in Mothers With the FMR1 Premutation Vary by CGG Repeat Length: A Longitudinal Study of 73 Women Spanning 20–75 Years of Age

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Women with the FMR1 premutation (FXpm) are at heightened genetic vulnerability for depression, with risk compounded by the stressors of parenting a disabled child. Although risk factors persist as FXpm women age, depression in FXpm mothers during midlife and old age is poorly characterized. This study used an accelerated longitudinal design to
Jessica Klusek, Lauren Jenner, Abigail L. Hogan, Laura Friedman, Elizabeth Berry‐Kravis, Flora Tassone, Tatyana Adayev, Amanda J. Fairchild, Jane E. Roberts   +8 more
wiley   +1 more source

Beyond Structure: Methylation Fine‐Tunes Stability and Folding Kinetics of bcl2Mid G‐Quadruplex

Angewandte Chemie, EarlyView.
The introduction of a single 5‐methylcytosine into a G‐rich sequence originating from the B‐cell lymphoma 2 (BCL2) gene promoter affects both the folding kinetics and thermodynamics of the two G4 structures and thus plays a crucial role in regulating G4 folding pathways, which has significant implications for the control of gene expression.
Nataša Medved, Mirko Cevec, Uroš Javornik, Jurij Lah, San Hadži, Janez Plavec   +5 more
wiley   +2 more sources

Genomics Review of Selective RET Inhibitors Sensitivity in Thyroid Cancer Clinical Trials

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT RET gene is a driver of thyroid cancer (TC) tumorigenesis. The incidence of TC has increased worldwide in the last few decades, both in medullary and follicular‐derived subtypes. Several drugs, including multikinase and selective inhibitors, have been explored.
Sara Gil‐Bernabé, Lucía García‐DeLaFuente, Alejandro García‐Álvarez, Ginesa García‐Rostán, Jaume Capdevila, Jorge Hernando   +5 more
wiley   +1 more source