Results 41 to 50 of about 251 (197)

ATZ‐1 promotes DNA replication efficiency to maintain normal meiotic function

FEBS Open Bio, EarlyView.
Absence of ATZ‐1 interferes with meiotic DNA replication and cell cycle function via CHK‐1. This causes downstream defects associated with DNA damage and genomic integrity. Taken together, this study suggests that ATZ‐1 influences DNA replication efficiency and cell cycle function to maintain normal meiotic function.
Taylin E. Gourley, Luke W. Molesworth, Nethma H. Waduge, Fahimeh Eskandari, Peter R. Boag, Gregory M. Davis   +5 more
wiley   +1 more source

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Reconstructive Surgery for Foot Ectrodactyly in an Adolescent Patient: A Case Report

Journal of Orthopaedic Case Reports
Introduction: Foot ectrodactyly is a rare congenital malformation characterized by the absence of the central rays resulting in a cleft foot deformity that may impair shoe wear, function, and cosmesis.
Centenarro Jose S Meceda, Adrian Joseph C Tablante, Emiliano B Tablante   +2 more
doaj   +1 more source

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +1 more source

Meckel-Gruber Syndrome: Autopsy Based Approach to Diagnosis

Journal of Forensic Science and Medicine, 2016
Meckel-Gruber syndrome (MGS) is a rare lethal congenital malformation affecting 1 in 13,250-140,000 live births. The classical diagnostic triad comprises multicystic dysplastic kidneys, occipital encephalocele, and postaxial polydactyly.
Asaranti Kar, Ipsita Dhal, Neha Madurwar, Shyama Kanungo   +3 more
doaj   +1 more source

Unilateral cleft hand with cleft foot.

International journal of health sciences, 2011
Congenital anomalies of the hand form an important class of congenital malformations. They have a huge functional importance because of the part played by the hand in the daily activities of a person. The deformities also have significant cosmetic significance and may also be associated with other anomalies.
Asif Nazir, Baba, Yasmeen J, Bhat, Sheikh Mushtaq, Ahmed, Abid, Nazir   +3 more
openaire   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Homozygous sequence variants in the WNT10B gene underlie split hand/foot malformation

Genetics and Molecular Biology, 2018
Split-hand/split-foot malformation (SHFM), also known as ectrodactyly is a rare genetic disorder. It is a clinically and genetically heterogeneous group of limb malformations characterized by absence/hypoplasia and/or median cleft of hands and/or feet ...
Asmat Ullah, Ajab Gul, Muhammad Umair, Irfanullah, Farooq Ahmad, Abdul Aziz, Abdul Wali, Wasim Ahmad   +7 more
doaj   +1 more source

Low‐Temperature Imidization of Polyimides (PI) for Scalable Manufacturing of Flexible Wearable Electronics

Advanced Engineering Materials, EarlyView.
Low‐temperature imidization of PEG‐modified polyimide enables fully screen‐printed, roll‐to‐roll fabrication of flexible electrodes on PET substrates, delivering robust mechanical durability and reliable ECG/EMG signal performance for wearable electronics.
Akib Abdullah Khan, Jong‐Hoon Kim
wiley   +1 more source

A case of McKusick-Kaufman syndrome [PDF]

Korean Journal of Pediatrics, 2011
McKusick-Kaufman syndrome (MKS) is an autosomal recessive multiple malformation syndrome characterized by hydrometrocolpos (HMC) and postaxial polydactyly (PAP).
Se-Hyung Son, Yoon Joo Kim, Eun Sun Kim, Ee-Kyung Kim, Han-Suk Kim, Beyong Il Kim, Jung-Hwan Choi   +6 more
doaj   +1 more source