Results 41 to 50 of about 6,135 (164)

Novel Mutations in the MKKS, BBS7, and ALMS1 Genes in Iranian Children with Clinically Suspected Bardet–Biedl Syndrome

Case Reports in Ophthalmological Medicine, 2022
Bardet–Biedl syndrome is a rare autosomal recessive form of syndromic obesity which is characterized by retinal degeneration, obesity, polydactyly, cognitive impairment, and renal and urogenital anomalies.
Roghayeh Dehghan, Mahdiyeh Behnam, Mansoor Salehi, Roya Kelishadi   +3 more
doaj   +1 more source

Management of Non‐Plaque‐Induced Gingival Conditions: A Systematic Review—Part 2: Inflammatory and Immune Conditions; Neoplasms; and Gingival Pigmentation

Journal of Clinical Periodontology, EarlyView.
ABSTRACT Aims This systematic review assesses current evidence on the management of non‐plaque (dental biofilm)‐induced gingival diseases and conditions (NPIGDs), including (i) inflammatory and immune conditions, (ii) neoplasms and (iii) gingival pigmentations.
Maria Clotilde Carra, Cecile Wasielewski, Bruno Špiljak, Maja Sabalić‐Schoener, Sebastien Jungo, Ivan Alajbeg   +5 more
wiley   +1 more source

Bardet-Biedl Syndrome

Annales d'endocrinologie, 2009
Bardet-Biedl syndrome (BBS) is a ciliopathy causing multivisceral abnormalities. Its prevalence in Europe is from 1/125,000 to 1/175,000. This disorder is defined by a combination of clinical signs: obesity, pigmentary retinopathy, post-axial polydactyly, polycystic kidneys, hypogenitalism, and learning disabilities, many of which appearing after ...
Alexander K. C. Leung, Marcus Schmitt, Christie P. Thomas, Cord Sunderkötter, Meinhard Schiller, Thomas Schwarz, Mark Berneburg, Alfried Kohlschütter, Lorenzo Cerroni, Haner Direskeneli, Kenneth Calamia, Gloria L. David, Darryl C. Zeldin, Bärbel Schütte, Lee A. Denson, Andreas Erhardt, Ralf Kubitz, Dieter Häussinger, Wendy M. Sealey, Donald M. Mock, Barry Wolf, Johannes Schumacher, Peter Propping, Dieter Metze, Alexander K. C. Leung, Andrew L. Wong, Mark Berneburg, Thomas Schwarz, Markus Hengstschläger, Whitney A. High, Kenneth R. Shroyer, M. Elizabeth McCready, Dennis E. Bulman, Ali R. Afzal, David B. Everman, Claude Stoll, Sukran Darcan, Yu Ru Kou, You Shuei Lin, Yoichi Suzuki, Keiya Tada, Alexander K. C. Leung, Susan Kupka, Wolfgang Dietmaier, Arndt Hartmann, Raoul C. M. Hennekam, John A. Belperio, Michael P. Keane, M. Iain Smith, Robert M. Strieter, Nestor A. Molfino, Francesca Sciandra, Tom Rossenbacker, Silvia G. Priori, Marco Senzolo, Christos Triantos, Dimitrios Samonakis, Evangelos Cholongitas, Andrew K. Burroughs, Marco Mura, Markus Braun-Falco, Silke Hofmann, Leena Bruckner-Tuderman   +62 more
  +6 more sources

Bardet-Biedl syndrome. [PDF]

Australian journal of ophthalmology, 1984
The Bardet-Biedl syndrome is characterized by five main features: obesity, polydactyly, pigmentary retinopathy, mental deficiency and hypogonadism; recently a sixth feature, renal disease, has been described. It was formerly known as the Laurence-Moon-Biedl syndrome, but Laurence and Moon described a different entity in which the main feature was ...
openaire   +3 more sources

Generation of a human iPSC line from a Bardet-Biedl syndrome patient compound heterozygous for the BBS7 variants c.849 + 1G > C/c.754G > A

Stem Cell Research, 2021
Bardet-Biedl syndrome (BBS) is primarily a multisystem nonmotile ciliopathy. In this study, we describe the successful establishment and characterization of an iPSC line from a patient diagnosed with BBS who was compound heterozygous for the BBS7 ...
Qian Fu, Hui Wang, Nan Zhou, Yeping Jiang, Ying Liang, Fan Duan, Lan Mi   +6 more
doaj   +1 more source

Established and Emerging Biomarkers to Characterize Persons at Risk for Obesity—Paving the Way for Targeted Clinical Intervention Trials—A Comprehensive Position Paper

Obesity Reviews, EarlyView.
ABSTRACT Despite all efforts, obesity remains a major health concern worldwide, with continuously increasing rates, affecting approx. 14% of the total world population, being as high as 43% in some countries. As obesity is related to numerous comorbidities, including type 2 diabetes, cardiovascular diseases, and some types of cancer, the consequences ...
Farhad Vahid, Victoria Stopa, Laurent Malisoux, Yvan Devaux, Elsa Lamy, Fernando Capela e Silva, Sarah Forberger, Tiziana de Magistris, Antoni Sureda, Margalida Monserrat‐Mesquida, Maria Pérez‐Jiménez, Rajini Nagrani, Maria Giovanna Onorati, Michele Filippo Fontefrancesco, Jonathan Turner, Mahesh S. Desai, Josep Tur, Cristina Bouzas, Gino Gabriel Bonetti, Oliver Riedel, Gitte Ravn‐Haren, Rikke Andersen, Torsten Bohn   +22 more
wiley   +1 more source

Setmelanotide in Bardet‐Biedl Syndrome: A Case Report

Pediatric Dermatology, EarlyView.
ABSTRACT Setmelanotide is a melanocortin‐4‐receptor agonist used for the treatment of hyperphagia in the genetic obesity syndrome Bardet‐Biedl. Presented is a case of diffuse hyperpigmentation in a patient treated with setmelanotide, which represents the most common side effect of this medication.
Shelby Smith, Eric Sanfilippo, Lara Wine Lee   +2 more
wiley   +1 more source

Broadening horizons: Pathogenesis and therapeutics of renal ciliopathies

Journal of Cell Communication and Signaling, Volume 20, Issue 3, September 2026.
This review elucidates the molecular mechanisms and aberrant signaling pathways in renal ciliopathies, links genetic heterogeneity to clinical phenotypes, and lays a theoretical basis for prenatal diagnosis and novel therapies. Abstract Renal ciliopathies encompass a spectrum of genetic disorders arising from structural or functional impairments of ...
Qiaowei Zhang, Shuwen Xue, Zhi Gao, Panlai Shi, Li Wang, Qi Feng, Xiangdong Kong, Xiaofan Zhu   +7 more
wiley   +1 more source

A Quarter Century of EHD Protein Research: From Endosomal Recycling to Ciliopathies

Traffic, Volume 27, Issue 3, September 2026.
Human EHD protein subcellular localization. ABSTRACT Eps15 homology domain‐containing proteins comprise a conserved family of membrane‐remodeling ATPases that regulate endocytic trafficking, membrane fission, receptor recycling, primary ciliogenesis and membrane dynamics across eukaryotes. Since the initial identification of EHD1 and its Caenorhabditis
Devin Frisby, Gunjan Misri, Naava Naslavsky, Steve Caplan   +3 more
wiley   +1 more source

Megaloblastic Anemia in Bardet-Biedl Syndrome: A Rare Case Report

Clinical Medicine Insights: Case Reports, 2023
Background: Bardet-Biedl syndrome (BBS) also known as Laurence-Moon-Bardet-Biedl syndrome one of the rarely reported genetic disorder characterized by an intellectual disability, limb, kidney abnormalities, obesity, and Rod-cone dystrophy.
Subtain Hassan, Qaisar Ali Khan, Priyadharshini Saravanan, Sumaira Iram, Samia Rohail, Naod F Belay, Muhammad Afzal, Faiza Amatul Hadi, Harshawardhan Pande   +8 more
doaj   +1 more source