Results 71 to 80 of about 35,422 (230)

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

Prenatal muscle development in a mouse model for the secondary dystroglycanopathies [PDF]

, 2016
The defective glycosylation of α-dystroglycan is associated with a group of muscular dystrophies that are collectively referred to as the secondary dystroglycanopathies.
A Leschziner, A Matsakas, A Yoshida, AM Beedle, AR Raphael, B Xia, B-V BD de, C Godfrey, C Longman, C Whitmore, CA Schneider, D Merrick, D Montarras, DE Michele, DJ Blake, DJ Lefeber, E Hohenester, E Stevens, F Muntoni, H Yin, J Reeuwijk van, J Ross, JB Miller, K Buysse, K Kobayashi, KM Wright, KP Campbell, L Wells, M Brockington, M Brockington, M Kanagawa, M Kanagawa, M Narusawa, M Ontell, MD Henry, MJ Duxson, MM Goddeeris, MR Ackroyd, MR Ackroyd, O Armand, S Chan, S Cirak, S Costanzo Di, S Sato, S Schiaffino, S Sugita, SC Brown, T Roscioli, T Willer, TJ Hawke   +49 more
core   +1 more source

Monogenic and syndromic obesity in children: Clinical recognition, genetics, and precision management

Pediatric Investigation, EarlyView.
Monogenic and syndromic obesity in children often arises from defects in the leptin–melanocortin pathway. Understanding these rare genetic causes not only clarifies mechanisms of appetite regulation but also enables precision therapies, offering hope beyond lifestyle interventions.
Hadel Khalil, Eugene Feigin, Hussein Zaitoon   +2 more
wiley   +1 more source

Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1-3 D4Z4 reduced alleles: Experience of the FSHD Italian National Registry [PDF]

, 2016
OBJECTIVES: Facioscapulohumeral muscular dystrophy type 1 (FSHD1) has been genetically linked to reduced numbers ( 64 8) of D4Z4 repeats at 4q35. Particularly severe FSHD cases, characterised by an infantile onset and presence of additional extra ...
Angelini, Corrado, Antonini, Giovanni, Berardinelli, Angela, Brisca, Giacomo, Bruno, Claudio, Bucci, Elisabetta, Cao, Michelangelo, D'Amico, Maria Chiara, D'Angelo, Maria Grazia, Di Muzio, Antonio, Fiorillo, Chiara, Govi, Monica, Maggi, Lorenzo, Mele, Fabiano, Moggio, Maurizio, Mongini, Tiziana, Morandi, Lucia, Nikolic, Ana, Pegoraro, Elena, Ravaglia, Sabrina, Ricci, Giulia, Rodolico, Carmelo, Rossi, Marta, Ruggiero, Lucia, Santoro, Lucio, Sera, Francesco, Siciliano, Gabriele, Tomelleri, Giuliano, Tupler, Rossella, Vercelli, Liliana, Villa, Luisa   +30 more
core   +4 more sources

Pregnancy Decision‐Making Among Women With Physical Disabilities: Cross‐Sectional Survey Study

BJOG: An International Journal of Obstetrics &Gynaecology, EarlyView.
ABSTRACT Objective Understand the pregnancy informational needs and decision‐making of women with physical disabilities. Design Cross‐sectional. Setting Community. Sample 114 adult American women with physical disabilities who had experience making a decision about pregnancy while disabled. Methods Online survey.
Claire Z. Kalpakjian, Susan D. Ernst, Heidi J. Haapala, Melissa L. Barber, Brittany R. Orians, Lukonde Mulenga, Shannen M. McIntosh, Julia Shah, Jodi M. Kreschmer, Rebecca Parten, Sara Rosenblum, Gina M. Jay   +11 more
wiley   +1 more source

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development [PDF]

, 2017
Bosma arhinia microphthalmia syndrome (BAMS) is an extremely rare and striking condition characterized by complete absence of the nose with or without ocular defects.
A Javed, A McKenna, A-V Gendrel, A-V Gendrel, Abdelaziz Sefiani, Alex C Magee, Alexandra D Gurzau, Asif Javed, Audrey S M Teo, AW Mould, Axel M Hillmer, B Brasseur, Bernd Wollnik, Bruno Reversade, C Bock, Camille Dion, Carine Bonnard, Chalermpong Chatdokmaiprai, Christine Bole-Feysot, Christopher T Gordon, Denise Williams, Dieter Meschede, Duangrurdee Wattanasirichaigoon, F Magdinier, Frédérique Magdinier, GA Van der Auwera, Gökhan Tunçbilek, Gökhan Yigit, H Coker, H Li, H Mishima, Hallvard Reigstad, Hicham Filali, HL Szabo-Rogers, Holger Thiele, Hülya Kayserili, IA Adzhubei, Ilham Ratbi, J Harrow, James M Murphy, Janine Altmüller, JB Tryggestad, JC de Greef, JD Thompson, JE Hewitt, Jeanne Amiel, JM Graham Jr., K Chen, K Chen, K Wang, Kelan Chen, Koh-ichiro Yoshiura, L-C Li, LA Kelley, M Tang, M-C Gaillard, M-C Gaillard, MA DePristo, Marnie E Blewitt, MD Nickell, ME Blewitt, Meriem Fikri, Michael L Cunningham, Mung Kei Kong, Myriam Oufadem, N Rosin, Nadine Rosin, Nawfal Fejjal, Nicola Ragge, Nicolas Lévy, NJ Brideau, Nobuhiko Okamoto, NS Verkaik, P Flicek, P Kumar, Patrick Nitschké, PE Forni, Peter Nürnberg, R Dutta, R-S Nozawa, Rachel Irving, RJLF Lemmers, RJLF Lemmers, RJLF Lemmers, Ruth McGowan, S Faisal Ahmed, S Sacconi, Sabine Sigaudy, Shifeng Xue, Siham Chafai Elalaoui, ST Sherry, Stanislas Lyonnet, Tamara J Beck, Vinod Varghese, Wolfgang Mühlbauer, X Liu, X Liu, X Robert   +97 more
core   +3 more sources

The Swedish National Pediatric Cataract Register (PECARE): Coexisting systemic disorders 2007–2023

Acta Ophthalmologica, EarlyView.
Abstract Purpose To analyse the frequency and type of coexisting systemic disorders in children operated on for cataract in Sweden. Methods Data were retrieved from the Swedish National Pediatric Cataract Register (PECARE) for children operated between January 1, 2007, and December 31, 2023 (n = 975), including follow‐ups at age 1, 2, 5 and 10 ...
David Wackerberg, Jenny Gyllén, Birgitte Haargaard, Alf Nyström, Arzu Karatepe Hashas, Anna Linnarsson Wiklund, Eric Trocmé, Ulrika Kjellström, Kristina Tornqvist, Gunilla Magnusson   +9 more
wiley   +1 more source

A case of Bethlem Myopathy with autosomal recessive inheritance with a novel mutation in the COL6A2 gene

Journal of Biochemical and Clinical Genetics, 2018
Background: Mutations in the collagen VI genes (COL6A1, COL6A2, and COL6A3) cause Ullrich congenital muscular dystrophy (UCMD) (UCMD; Mendelian Inheritance in Man [MIM] 254090), Bethlem myopathy (BM) (BM; MIM 158810) and phenotypes between BM and UCMD ...
Muhsin Elmas, Basak Gogus
doaj   +1 more source

Heartbreak hotel: a convergence in cardiac regeneration [PDF]

, 2016
In February 2016, the Company of Biologists hosted an intimate gathering of leading international researchers at the forefront of experimental cardiovascular regeneration, with its emphasis on ‘Transdifferentiation and Tissue Plasticity in Cardiovascular
Schneider, MD
core   +1 more source

Regulation of PHOX2B gene expression by the long non‐coding natural antisense RNA PHOX2B‐AS1

The FEBS Journal, EarlyView.
PHOX2B is a transcription factor essential for autonomic nervous system development. We identify and characterize PHOX2B‐AS1, a human long non‐coding antisense transcript at the PHOX2B locus, along with its murine counterpart. Our findings reveal bidirectional transcription and reciprocal regulation: PHOX2B activates PHOX2B‐AS1, whereas PHOX2B‐AS1 ...
Simona Di Lascio, Ana Lucia Cuadros Gamboa, Martina Bertocchi, Filippo Chiesa, Francesca Cargnin, Ettore Mosca, Paride Pelucchi, Viviana Tritto, Stefania Corti, Isabella Ceccherini, Paola Riva, Roberta Benfante, Diego Fornasari   +12 more
wiley   +1 more source