Results 71 to 80 of about 9,256,185 (298)

X-linked hypophosphatemia with enthesopathy [PDF]

BMJ Case Reports, 2017
A 42-year-old man presented with lower limb bowing since childhood along with low backache and proximal muscle weakness for 8 years. He had strong family history of similar complaints in his elder brother, younger sister and daughter. Examination revealed loss of teeth and genu varum.
Rimesh, Pal, Anil, Bhansali
openaire   +2 more sources

Peripheral lysosomes recruit PLEKHG3 to focal adhesions and restrain protrusion dynamics

FEBS Letters, EarlyView.
Proximity‐dependent labeling at the LAMTOR complex revealed the Rho GEF PLEKHG3 as a lysosome‐proximal protein directing the study toward the influence of lysosome positioning on actin dynamics and cell motility. We show that PLEKHG3 colocalizes with lysosomes at focal adhesion sites and observe that forced peripheral dispersion of lysosomes hinders ...
Rainer Ettelt, Ana‐Maria Sandru, Georg Vucak, Sebastian Didusch, Biljana Riemelmoser, Karin Ehrenreiter, Markus Hartl, Lukas A. Huber, Manuela Baccarini   +8 more
wiley   +1 more source

Revisiting X-linked agammaglobulinemiaRevisiting XLA [PDF]

Journal of Human Immunity
Although the pathogenesis of XLA is well understood, several issues remain open for discussion. We describe several unresolved issues, including non-coding BTK variants, contiguous deletion syndrome, Helicobacter infection, non-infectious ...
Hirokazu Kanegane, Kay Tanita, Madoka Nishimura, Dan Tomomasa, Kento Inoue, Toru Kanamori, Akira Nishimura, Hans D. Ochs   +7 more
doaj   +1 more source

Engineering peptides into antibodies—opportunities and strategies for therapeutic innovation

FEBS Letters, EarlyView.
Peptides and antibodies occupy complementary therapeutic niches. Peptides recognize difficult targets in a compact format, while antibodies add specificity, long half‐life, and effector functions. This review examines strategies that merge both modalities—peptide grafting into loops, terminal and Fc fusions, and bioconjugation—highlighting how ...
Jinling Wang, Ruslana Romaniuk, Hristo L. Svilenov   +2 more
wiley   +1 more source

Clinical case seminar - Hypogonadotropic hypogonadism as a presenting feature of late-onset X-linked adrenal hypoplasia congenita [PDF]

, 2002
Mutations in the orphan nuclear receptor DAX-1 cause X-linked adrenal hypoplasia congenita. Affected boys usually present with primary adrenal failure in early infancy or childhood.
Beck-Peccoz, P, Achermann, JC, Romoli, R, Spada, A, Mantovani, G, Persani, L, Jameson, JL, Ozisik, G, Borretta, G   +8 more
core  

X-linked model.

, 2018
Schema for X-linked inheritance when cancer status is specific to women (all carrier men are effectively disease censored). Two family patterns with a pair of first-degree affected women are the maternal grandmother (MGM) family and the paternal ...
Jasmine Kaur (88075), Qianqian Zhu (48100), Ruea-Yea Huang (295079), Shashikant B. Lele (506307), Kunle O. Odunsi (4856422), John Lewis Etter (4856428), Peter J. Frederick (226819), Katherine A. Grzesik (4856434), Kevin H. Eng (610953), Rikki Cannioto (4856443), Kirsten B. Moysich (245994), Emese Zsiros (4856431), J. Brian Szender (4856437), John J. Krolewski (4856440), Samantha Poblete (4856425), Sebastiano Battaglia (674413)   +15 more
core   +1 more source

X-linked lymphoproliferative disease (XLP) [PDF]

, 2012
Review on X-linked lymphoproliferative disease (XLP), with data on clinics, and the genes ...
Nichols, KE, Bassiri, H
core   +1 more source

Liver organoids: modelling complexity in homeostasis and disease

FEBS Letters, EarlyView.
Studying liver in vitro has been challenging because simple 2D cell cultures fail to capture liver's cellular and architectural complexity. To bridge this gap, scientists increasingly use organoids, 3D liver models which better mimic liver composition and function. This review examines recent advances in liver organoid complexity and realism, discusses
Anna M. Dowbaj, Meritxell Huch
wiley   +1 more source

Neonatal Thrombocytopenia and Rectal Bleeding as Initial Manifestations of Wiskott-Aldrich Syndrome

National Board of Examinations Journal of Medical Sciences
A male infant was born via lower segment cesarean section (LSCS), to a G2P1L1 mother with a birth weight of 3.78 kg. On day 3 of life, he developed periumbilical redness with a platelet count of 20,000/µL, prompting platelet transfusions.
Srijan Singh, Minu Bajpai
doaj   +1 more source

Golgi enzymes are retrieved from the plasma membrane to the trans‐Golgi network

FEBS Letters, EarlyView.
Golgi enzymes are traditionally considered resident proteins retained within the Golgi apparatus. Here, we demonstrate that a subset transiently reaches the cell surface and is subsequently retrieved to the trans‐Golgi network via retrograde transport. Using a nanobody‐based toolkit, we uncover a dynamic trafficking cycle of several Golgi enzymes.
Dominik P. Buser, Tina Junne
wiley   +1 more source