Results 161 to 170 of about 37,496 (244)

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron   +11 more
wiley   +1 more source

Correlative Changes in Endogenous Polyamines and Hormones Associated with Aging in Ancient <i>Cinnamomum camphora</i>. [PDF]

Plants (Basel)
Feng J, He M, Sun J, Wen X, Ye G, Feng Y, Chen Q, Wu H, El-Kassaby YA, Yang Z.   +9 more
europepmc   +1 more source

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

Spring ephemeral Erythronium umbilicatum may not be vulnerable to phenological mismatch with overstory trees. [PDF]

Am J Bot
Schopler M, Simha A, Dalton RM, Wilson EM, Redick E, Youngsteadt E, Petry WK.   +6 more
europepmc   +1 more source

Milestone Attainment in Young Children With Arthrogryposis Multiplex Congenita: Developmental Profile and Associated Factors

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Evidence on developmental milestones in children with arthrogryposis multiplex congenita (AMC) under the age of five is scarce. This multisite cross‐sectional study described developmental status and examined factors associated with milestone attainment in 143 children aged 0–66 months from a pediatric AMC Registry.
Ahlam Zidan, Sophia C. Pasia, Emmanouil Rampakakis, Reggie Hamdy, Frank Rauch, Lauren C. Hyer, Joel Lerman, Haluk Altiok, Krister Freese, Cary Mielke, Sarah B. Nossov, Philip F. Giampietro, Thania Ordaz‐Robles, Noémi Dahan‐Oliel   +13 more
wiley   +1 more source

Comparative transcriptomics and targeted metabolomics reveal mechanisms of leaf greenness retention during tobacco (Nicotiana tabacum L.) air-curing. [PDF]

BMC Plant Biol
Chang P, Liu Y, Chen X, Luo F, Hu H, Guo M, Du J, Meng L.   +7 more
europepmc   +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

Foliar ¹⁵N-urea absorption and translocation in wheat with contrasting senescence patterns at late growth stage. [PDF]

Sci Rep
Gong YH, Zhu YM, Li T, Abo El-Maati MF, Zhou WH, El-Sappah AH.   +5 more
europepmc   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

DNA‐mimic for Specific Surface Functionalization of Zr‐MOFs for Bacterial Targeting

Angewandte Chemie, EarlyView.
We introduce phosphotyrosine‐modified PNA as a superior, single‐step post‐synthesis surface coating for PCN‐222. The DNA mimic allows for controlled post‐functionalization with single‐stranded DNA for the attachment of protein moieties for bacterial targeting. ABSTRACT Nanosized metal–organic frameworks (MOFs) are versatile platforms used in biomedical
Anna Scheeder, Jon Ostolaza‐Paraiso, Andrew G. Baker, Juan F. Blandez, Georgina E. Lindop, Simon M. Fairclough, Ljiljana Fruk, Ioanna Mela, David Fairen‐Jimenez, Clemens F. Kaminski   +9 more
wiley   +2 more sources