Results 261 to 270 of about 1,540,335 (330)

Targeted Next‐Generation Sequencing of the Leptin‐Melanocortin Pathway in Severe Obesity

Obesity, EarlyView.
ABSTRACT Objective Pathogenic variants in five established leptin‐melanocortin pathway genes (LEP, LEPR, MC4R, PCSK1, POMC) are associated with severe early‐onset obesity and are targets for emerging treatments. However, these variants are rare in these patients, suggesting the involvement of additional genes interacting with this pathway. Methods Next‐
Nathan Faccioli, Chrisitne Poitou, Mathieu Georget, Françoise Bertin, Ahlam Azar‐Kolakez, Claire Carette, Pauline Faucher, Blandine Gatta‐Cherifi, Julie Gonneau‐Lejeune, Agnès Linglart, Karine Clément, Johanne Le Beyec‐Le Bihan, Béatrice Dubern   +12 more
wiley   +1 more source

Functional and structural impacts of oncogenic missense variants on human polo-like kinase 1 protein. [PDF]

Front Bioinform
Munieswaran G, Manickam V.
europepmc   +1 more source

Huntington's Disease‐like Syndrome as a Rare Presentation of CACNA1A‐Related Disorder

Movement Disorders Clinical Practice, EarlyView.
Petros Boumis, Constantin Potagas, Christos Koros, Vasilios Constantinides, Nikolaos Ragazos, Chrysoula Koniari, Stavroula Aristeidou, Chrisoula Kartanou, Emmanouela Linardaki, Nektarios Tavernarakis, Evangelos Anagnostou, Leonidas Stefanis, Socratis Papageorgiou, Georgia Karadima, Georgios Koutsis   +14 more
wiley   +1 more source

IKAROS Associated Immunodeficiency and Thrombotic Thrombocytopenic Purpura

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Pathogenic variants in IKZF1 (IKAROS) are linked to immunodeficiency, malignancy, and immune dysregulation. We describe a family with a rare IKZF1 variant presenting with humoral immunodeficiency and thrombotic thrombocytopenic purpura (TTP). A non‐consanguineous family was clinically monitored; clinical, immunological, and genetic data (exome
Ilia Spivak, Daniella Magen, Karin Weiss, Tamar Paperna, Suhair Hanna, Amos Etzioni, Adi Miller‐Barmak, Yonatan Butbul Aviel   +7 more
wiley   +1 more source

Prenatal Imaging of Micrognathia, Micromelia, and Fetal Hydrops Leading to the Diagnosis of Achondrogenesis Type II with a <i>COL2A1</i> Missense Mutation. [PDF]

Int J Mol Sci
Wu YC, Chen CY, Chen GY, Hsiao CH, Chu WC, Huang JY.   +5 more
europepmc   +1 more source

Prenatal Exome Sequencing Identifies Dual Maternal‐Fetal Diagnosis of HbF Mission Bay, a Novel HBG2 Variant Associated With Methemoglobinemia, Hypoxia and Hemolytic Anemia

Prenatal Diagnosis, EarlyView.
ABSTRACT Prenatal exome sequencing (ES) can establish rare genetic diagnoses in a fetus but may also lead to occult genetic diagnosis in a biological parent. We present a case of dual fetal and maternal diagnosis by prenatal ES, in a fetus with unexplained anemia and in a pregnant patient with sickle cell disease (SCD) and recurrent unexplained hypoxia.
Matthew A. Shear, Billie Lianoglou, Ugur Hodoglugil, W. Patrick Devine, Ashutosh Lal, Juan Gonzalez, Teresa N. Sparks   +6 more
wiley   +1 more source

A novel frameshift variant of <i>PAX3</i> in a Chinese Yugur family with Waardenburg syndrome type 1. [PDF]

Front Genet
Zhan L, Xu B, Lin D, Wang Y, Bian P.
europepmc   +1 more source

CRPPA exon 6–9 deletion as a founder mutation in Chinese patients with dystroglycanopathy

Pediatric Investigation, EarlyView.
Analysis of sixteen Chinese dystroglycanopathy patients reveals a founder mutation (CRPPA exon 6–9 deletion) in 25% of cases and expands the phenotypic spectrum from severe muscle‐eye‐brain disease to limb‐girdle muscular dystrophy. ABSTRACT Importance Dystroglycanopathies (DGPs) are a group of muscular dystrophies with abnormal glycosylation of ...
Jihang Luo, Yidan Liu, Danyu Song, Shiqi Yang, Xiaona Fu, Lin Ge, Cuijie Wei, Liya Cui, Yanbin Fan, Huaxia Luo, Yanwei He, Jin Xu, Qiang Shen, Yuxuan Guo, Motoi Kanagawa, Tatsushi Toda, Jingmin Wang, Hong Zhang, Hui Xiong   +18 more
wiley   +1 more source

Gonadal Function and Reproductive Health Challenges in Triple a Syndrome: A Narrative Review. [PDF]

Medicina (Kaunas)
Gheorghe-Milea A, Georgescu CE.
europepmc   +1 more source

Saturation mutagenesis identifies activating and resistance-inducing FGFR kinase domain mutations. [PDF]

Nat Genet
Tangermann C, Ghosh A, Ziegler M, Facchinetti F, Stappenbeck J, Carus Sahin YO, Riester M, Viardot LC, Zundel T, Friboulet L, Hollebecque A, Naveja JJ, Wanninger A, Hess ME, Brummer T, Boerries M, Loges S, Loriot Y, Illert AL, Diederichs S.   +19 more
europepmc   +1 more source