Results 41 to 50 of about 6,126 (165)

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

Amylin analogues as a novel perspective in anti‐obesity therapy

British Journal of Pharmacology, EarlyView.
Abstract Public health systems face a major challenge because of the worldwide obesity epidemic. The number of obese individuals has increased dramatically and, even in Switzerland which may be considered a relatively “lean” country, the numbers are alarmingly high and have reached almost 50% of the adult population.
Thomas A. Lutz
wiley   +1 more source

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

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

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

Management of Azoospermia: A Systematic Approach

The Obstetrician &Gynaecologist, EarlyView.
ABSTRACT Key Content Work‐up of azoospermic men includes a detailed history, physical examination and investigations to find the underlying cause. Causes and management of azoospermia (pre‐testicular, testicular and post‐testicular) with case presentations.
Naimah Raza, Alex Grammatis, Philippa Sangster, Jackson Kirkman‐Brown   +3 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 ...
C, Rooryck, D, Lacombe
  +6 more sources

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

Phenotypic Expansion and Molecular Implications in Recessive FUZ ‐Related Ciliopathy

Clinical Genetics, Volume 110, Issue 2, Page 236-241, August 2026.
Our patient with homozygous FUZ p.Arg234Trp, potentially altering FUZ‐CPLANE2 interactions, presented with aorto‐pulmonary window, Hirschsprung disease, and shared phenotypes with previously reported ciliopathy patients. This report provides additional evidence for FUZ as a causative gene for ciliopathy, offering novel insights into the phenotype ...
Yosuke Ogawa, Shota Kato, Kazuhiro Shiraga, Motohiro Kato, Ryo Inuzuka   +4 more
wiley   +1 more source