Results 41 to 50 of about 1,464 (120)

Prenatal phenotype analysis and mutation identification of a fetus with meckel gruber syndrome

Frontiers in Genetics, 2022
Ciliopathies are a class of inherited severe human disorders that occur due to defective formation or function of cilia. The RPGRIP1L (retinitis pigmentosa GTPase regulator-interacting protein1-like) gene encodes for a ciliary protein involved in ...
Laura Moreno-Leon, Marco A. Quezada-Ramirez, Evan Bilsbury, Courtney Kiss, Andrea Guerin, Hemant Khanna   +5 more
doaj   +1 more source

Research progress on the regulation of craniofacial development and malformation by fibroblast growth factor 8

口腔疾病防治, 2022
Fibroblast growth factor 8 (FGF8) is a kind of secretory polypeptide that has crucial roles in the development of various tissues and organs. Current studies have found that FGF8 can regulate the differentiation of cranial neural crest cells by ...
CAO Xiaoling, XIE Jing, ZHOU Xuedong
doaj   +1 more source

Dysregulation of sonic hedgehog signaling causes hearing loss in ciliopathy mouse models

eLife, 2020
Defective primary cilia cause a range of diseases known as ciliopathies, including hearing loss. The etiology of hearing loss in ciliopathies, however, remains unclear.
Kyeong-Hye Moon, Ji-Hyun Ma, Hyehyun Min, Heiyeun Koo, HongKyung Kim, Hyuk Wan Ko, Jinwoong Bok   +6 more
doaj   +1 more source

Current Controversies in Prenatal Diagnosis—Conference Debate 2024: All Fetuses Undergoing Fetal Therapy Should Have Exome Sequencing

Prenatal Diagnosis, EarlyView.
ABSTRACT This manuscript summarises the debate held at the 2024 annual meeting of The International Society for Prenatal Diagnosis (ISPD). Experts discussed whether all fetuses undergoing fetal therapy should undergo exome sequencing. Arguments in favor included that, with increasing experience and better clinical availability, exome sequencing can ...
Teresa N. Sparks, Rogelio Cruz Martinez, Tim Van Mieghem   +2 more
wiley   +1 more source

Depletion of ALMS1 affects TGF-β signalling pathway and downstream processes such as cell migration and adhesion capacity

Frontiers in Molecular Biosciences, 2022
Background:ALMS1 is a ubiquitous gene associated with Alström syndrome (ALMS). The main symptoms of ALMS affect multiple organs and tissues, generating at last, multi-organic fibrosis in the lungs, kidneys and liver.
Brais Bea-Mascato, Brais Bea-Mascato, Elena Neira-Goyanes, Elena Neira-Goyanes, Antía Iglesias-Rodríguez, Antía Iglesias-Rodríguez, Diana Valverde, Diana Valverde   +7 more
doaj   +1 more source

How exome sequencing improves the diagnostics and management of men with non‐syndromic infertility

Andrology, EarlyView.
Abstract Male infertility affects approximately 17% of all men and represents a complex disorder in which not only semen parameters such as sperm motility, morphology, and number of sperm are highly variable, but also testicular phenotypes range from normal spermatogenesis to complete absence of germ cells.
Birgit Stallmeyer, Ann‐Kristin Dicke, Frank Tüttelmann   +2 more
wiley   +1 more source

Human asthenozoospermia: Update on genetic causes, patient management, and clinical strategies

Andrology, EarlyView.
Abstract Background In mammals, sperm fertilization potential relies on efficient progression within the female genital tract to reach and fertilize the oocyte. This fundamental property is supported by the flagellum, an evolutionarily conserved organelle, which contains dynein motor proteins that provide the mechanical force for sperm propulsion and ...
Emma Cavarocchi, Maëva Drouault, Joao C. Ribeiro, Violaine Simon, Marjorie Whitfield, Aminata Touré   +5 more
wiley   +1 more source

Biallelic FGF4 Variants Linked to Thoracic Dystrophy and Respiratory Insufficiency

Clinical Genetics, EarlyView.
We report three people from two unrelated families with a clinical diagnosis of thoracic dystrophy characterized by short or missing ribs, narrow chest, and respiratory insufficiency. Affected people each have rare, biallelic, predicted deleterious missense substitutions in FGF4, a gene known to be essential for the formation of the thoracic skeleton ...
Laura M. Watts, Esther Kinning, Donald R. Latner, Marla Johnston, Jessica Patrick‐Esteve, Gregory M. Cooper, Stephen R. F. Twigg, Alistair T. Pagnamenta, Jenny C. Taylor   +8 more
wiley   +1 more source

Alström syndrome: current perspectives

The Application of Clinical Genetics, 2015
María Álvarez-Satta, Sheila Castro-Sánchez, Diana Valverde Departamento de Bioquímica, Genética e Inmunología, Facultad de Biología, Universidad de Vigo, Vigo, Spain Abstract: Alström syndrome (ALMS)
Álvarez-Satta M, Castro-Sánchez S, Valverde D   +2 more
doaj  

Pathogenic variants prevalence patients with diabetic kidney disease in Japan: A descriptive study

Journal of Diabetes Investigation, EarlyView.
Previous studies have identified pathogenic variants in 22% of Caucasian patients with diabetic kidney disease (DKD); however, this proportion may vary depending on ethnicity and updates to the database. Whole‐genome sequencing of 79 patients with DKD in Japan revealed that 34.1% had kidney‐related heterozygous pathogenic variants, and 12.7% had ...
Toyohiro Hashiba, Yuka Sugawara, Yosuke Hirakawa, Dai Sato, Reiko Inagi, Masaomi Nangaku   +5 more
wiley   +1 more source