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The precursor of Alzheimer's disease amyloid A4 protein resembles a cell-surface receptor
TLDR
An apparently full-length complementary DNA clone coding for the A4 polypeptide is isolated and sequenced and suggests that the cerebral amyloid deposited in Alzheimer's disease and aged Down's syndrome is caused by aberrant catabolism of a cell-surface receptor. Expand
The skeletal muscle chloride channel in dominant and recessive human myotonia.
TLDR
An unusual restriction site in the CLC-1 locus in two GM families identified a mutation associated with that disease, a phenylalanine-to-cysteine substitution in putative transmembrane domain D8, which suggests that different mutations in C LC-1 may cause dominant or recessive myotonia. Expand
GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families
TLDR
The results indicate that mutations disturbing normal GLI3 expression may have a causative role in GCPS and three balanced translocations associated with GCPS are shown. Expand
THIK-1 and THIK-2, a Novel Subfamily of Tandem Pore Domain K+ Channels* 210
TLDR
Two cDNAs encoding novel K+channels, THIK-1 and THik-2 (tandem pore domainhalothane inhibited K +channel), were isolated from rat brain and showed that rTHIK-2 is strongly expressed in most brain regions, whereas rTHik-1 expression is more restricted. Expand
Differential expression of myogenic determination genes in muscle cells: possible autoactivation by the Myf gene products.
TLDR
It is shown that human skeletal muscle tissue contains, besides the previously described Myf‐5, two additional factors Myf'3 and Myf•4 which represent the human homologues of the rodent proteins MyoD1 and myogenin. Expand
Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia
TLDR
PORCN is identified, encoding a putative O-acyltransferase and potentially crucial for cellular export of Wnt signaling proteins, as the gene mutated in FDH, implicate FDH as a developmental disorder caused by a deficiency in PORCN. Expand
Expression Pattern in Brain of TASK-1, TASK-3, and a Tandem Pore Domain K+ Channel Subunit, TASK-5, Associated with the Central Auditory Nervous System
TLDR
HTASK-5 K(+) channels, possibly in conjunction with auxiliary proteins, may play a role in the transmission of temporal information in the auditory system and be defined as molecular targets for extracellular protons and volatile anesthetics. Expand
Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome.
TLDR
It is reported for the first time that CHILD syndrome (MIM 308050), an X-linked dominant, male-lethal trait characterized by an inflammatory nevus with striking lateralization and strict midline demarcation, as well as ipsilateral hypoplasia of the body is caused by mutations in the gene NSDHL located at Xq28 encoding a 3beta-hydroxysteroid dehydrogenase functioning in the cholesterol biosynthetic pathway. Expand
Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome.
TLDR
The extension of the GLI3 mutation analysis to 24 new GCPS cases is reported, report the identification of 15 novel mutations present in one of the patient'sGLI3 alleles, and postulate that GCPS may be due either to haploinsufficiency resulting from the complete loss of one gene copy or to functional haplo insufficiency related to compromised properties of this transcription factor such as DNA binding and transactivation. Expand
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