Results 201 to 210 of about 10,347 (278)

OGFRL1 deficiency causes CRMO via pathological osteoclastogenesis, with therapeutic response to TNF inhibitor

Arthritis &Rheumatology, Accepted Article.
Objectives To verify the pathogenesis of the OGFRL1 loss‐of‐function variant (c.30del, p. F10Ffs*110) identified in a CRMO patient and investigate the underlying mechanism. Methods Whole exome sequencing and Sanger sequencing were performed to identify and confirm the variant.
Wen Xiong, Yusha Wang, Tingyan He, Jinjian Fu, Ying Luo, Jinbo Wang, Jun Wang, Xiaomin Yu, Qing Zhou, Jun Yang   +9 more
wiley   +1 more source

Switching disease‐modifying therapies in patients with spinal muscular atrophy: A systematic review on effectiveness outcomes

British Journal of Clinical Pharmacology, EarlyView.
With multiple disease‐modifying therapies now available, treatment switching has become an important clinical consideration in the management of spinal muscular atrophy (SMA). While some switches are prompted by suboptimal clinical response, more commonly they are driven by treatment burden, convenience, or adverse events.
Andrej Belančić, Elvira Meni Maria Gkrinia, Patrick Eustaquio, Andrea Katrin Faour, Dinko Vitezić   +4 more
wiley   +1 more source

Widespread Translocation from Autosomes to Sex Chromosomes Preserves Genetic Variability in an Endangered Lark [PDF]

, 2010
M. de L. Brooke, Justin A. Welbergen, Mark C. Mainwaring, Marco van der Velde, Anna M. F. Harts, Jan Komdeur, William Amos   +6 more
openalex   +1 more source

Runs of Homozygosity Implicate Autozygosity as a Schizophrenia Risk Factor [PDF]

, 2012
Cichon, Sven, Consortium, The Schizophrenia Psychiatric Genome-Wide Association Study, Gejman, P. V., Howrigan, D. P., Keller, M. C., Lee, S. H., Lencz, T., Levinson, D. F., Neale, B. M., Ripke, S., Simonson, M. A., Sullivan, P. F.   +11 more
core   +1 more source

Maximal use of 0.05% topical isotretinoin in patients with congenital ichthyosis results in low systemic exposure

British Journal of Clinical Pharmacology, EarlyView.
Abstract Congenital ichthyoses (CI) are rare, inherited skin disorders characterized by hyperkeratosis, scaling and fissuring that significantly impair patients' quality of life. Treatment options are limited, with systemic retinoids reserved for severe cases owing to their adverse effect profile.
Holm Schneider, Christopher G. Bunick, Kathrin Hillmann, Thy N. Huynh, Steven Kempers, Nicolai Peschel, Ulrike Blume‐Peytavi, Joyce M. C. Teng, Alan M. Mendelsohn, John Stinson, Lara Wine Lee   +10 more
wiley   +1 more source

Long‐term impact of Elexacaftor/Tezacaftor/ivacaftor on pulmonary, nutritional and metabolic outcomes in homozygous F508del cystic fibrosis patients: A real‐world cohort study

British Journal of Clinical Pharmacology, EarlyView.
Aim Elexacaftor/tezacaftor/ivacaftor (ETI) has markedly improved cystic fibrosis (CF) outcomes. However, its long‐term impact on nutrition, metabolism and liver health remains underexplored. We assessed 30‐month changes in pulmonary, nutritional, metabolic and inflammatory markers in people with CF (PwCF) homozygous for F508del.
Nicola Perrotta, Luigi Angelo Fiorito, Roberta Vescovo, Anna Virgilio, Giulia Amato, Giuseppe Cimino   +5 more
wiley   +1 more source

Meiotic outcome in two carriers of Y autosome reciprocal translocations: selective elimination of certain segregants [PDF]

, 2017
H. Ghevaria, Roy Naja, Sioban SenGupta, Paul Serhal, Joy Delhanty   +4 more
openalex   +1 more source

Periodontitis treatment and microbiome in a patient with FAM20A mutation: Case study of 1.5 years

Clinical Advances in Periodontics, EarlyView.
Abstract Background Enamel‐renal‐gingival syndrome (ERGS) is an autosomal recessive disorder caused by mutations in the FAMily with sequence similarity 20A (FAM20A) gene, and is characterized by amelogenesis imperfecta, delayed or failed tooth eruption, and periodontitis.
John Rong Hao Tay, Preethi Balan, Chaminda Jayampath Seneviratne   +2 more
wiley   +1 more source

Anomalies des autosomes et infertilité masculine [PDF]

, 1994
Y. Rumpler, Odette Gabrel-Robez
openalex   +1 more source