Results 161 to 170 of about 66,200 (304)

Genetic Diversity and Population Structure of Two Mexican Creole Cattle Populations. [PDF]

Animals (Basel)
Michel-Regalado NG, Lemus-Flores C, Ayala-Valdovinos MÁ, Grageola-Núñez F, Severino-Lendechy VH, Duifhuis-Rivera T, Martínez-Velázquez G, Lemus-Ávalos G, Lara-Castillo JB.   +8 more
europepmc   +1 more source

PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda, Barbara Belmessieri, Patrizia Accorsi, Jessica Galli, Edoardo Errichiello, Lucio Giordano   +5 more
wiley   +1 more source

Amyloidosis secondary to familial Mediterranean fever: machine learning-based prediction models. [PDF]

Rheumatology (Oxford)
Aktas B, Azman E, Oner YE, Kaya K, Yuksel HM, Hosgel A, Karahan KD, Coban ZB, Parlar K, Kilinc OC, Acar B, Ugurlu S.   +11 more
europepmc   +1 more source

A Novel NR3C1 Frameshift Variant Associated With Familial Glucocorticoid Resistance Syndrome: An Integrated Analysis of Steroid Profiling and Structural Modeling

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glucocorticoid resistance syndrome (GRS) is a rare hereditary disorder caused by pathogenic variants in NR3C1, characterized by marked phenotypic heterogeneity and frequent misdiagnosis as primary aldosteronism or subclinical Cushing's syndrome.
Sufang Yun, Zhifeng Zhu, Fengye Zhou, Ying Liu, Chunfang Liang, Haitao Ju, Lin Lu, Zhaoli Yan   +7 more
wiley   +1 more source

Haemochromatosis - a modern clinician's guide. [PDF]

Intern Med J
Fiori JG, Olynyk JK.
europepmc   +1 more source

Immune Modulatory Therapy for Severe Dengue Hemorrhagic Fever in a Patient With Mitochondrial Complex I Deficiency: A Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Dengue virus (DENV) poses a serious global health challenge, particularly in cases of dengue hemorrhagic fever (DHF). Patients with preexisting mitochondrial disorders may be at increased risk for complications due to the specific impact of DENV on mitochondrial‐dependent cellular processes and immune function.
Audra N. Iness, Ameya S. Walimbe, Emily R. Strouphauer, Michio Hirano, Alejandro D. Iglesias, Valentina Emmanuele, Caitlin C. Griffin, Sheldon L. Kaplan, William A. Gomes, Karen K. Moeller, Stephen F. Kralik, Fernando Scaglia   +11 more
wiley   +1 more source

Faroese whole genomes provide insight into ancestry and recent selection. [PDF]

Elife
Hamid I, Mortensen Ó, Refoyo-Martínez A, Lydersen LN, Emde AK, Hendershott M, Apol KD, Andorsdóttir G, Meisner J, Wasik KA, Racimo F, Castel SE, Gregersen NO.   +12 more
europepmc   +1 more source

A Multicenter, Open‐Label, Phase 2 Trial Comparing Crizanlizumab Combined With Standard Therapy to Standard Therapy Alone on Renal Function in Patients With Sickle Cell Nephropathy (STEADFAST)

American Journal of Hematology, EarlyView.
Kenneth I. Ataga, Pablo Bartolucci, Santosh L. Saraf, Vimal K. Derebail, Adlette Inati, Jeffrey D. Lebensburger, Laurie DeBonnett, Rodolfo D. Cancado, Claire C. Sharpe   +8 more
wiley   +1 more source

Genetic Risk and High Burden of Depression and Suicide in the Maya‐Mestizo Population of Yucatán, México

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Major depression and suicide are critical public health concerns, particularly in underrepresented populations with unique genetic and sociocultural contexts. The Maya‐mestizo population presents the highest suicide rates in the country but remains understudied in psychiatric genetics. This study evaluated the association between three genetic
Marta Menjivar, Erandi Bravo, Margarita Rivera‐Balancan, Barbara Itzel Pena Espinoza   +3 more
wiley   +1 more source

Genomic Survey of Selection Footprints in Three Buffalo Breeds from Eastern Europe. [PDF]

Animals (Basel)
Saleh MS, Zaghloul AR, Carpio MG, Pierini C, De Palo P, Landi V.   +5 more
europepmc   +1 more source